Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense...
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Autor*in:	Tang, Bei-sha [verfasserIn] Zhao, Guo-hua [verfasserIn] Luo, Wei [verfasserIn] Xia, Kun [verfasserIn] Cai, Fang [verfasserIn] Pan, Qian [verfasserIn] Zhang, Ru-xu [verfasserIn] Zhang, Fu-feng [verfasserIn] Liu, Xiao-min [verfasserIn] Chen, Biao [verfasserIn] Zhang, Cheng [verfasserIn] Shen, Lu [verfasserIn] Jiang, Hong [verfasserIn] Long, Zhi-gao [verfasserIn] Dai, He-ping [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2004

Schlagwörter:	Compound Muscle Action Potential Axonal Neuropathy Motor Nerve Conduction Velocity Anterior Horn Cell Sensory Nerve Action Potential

Übergeordnetes Werk:	Enthalten in: Human genetics - Berlin : Springer, 1964, 116(2004), 3 vom: 23. Nov., Seite 222-224
Übergeordnetes Werk:	volume:116 ; year:2004 ; number:3 ; day:23 ; month:11 ; pages:222-224

Links:	Volltext

DOI / URN:	10.1007/s00439-004-1218-3

Katalog-ID:	SPR006240356

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520			\|a Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families.
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912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_120
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912			\|a GBV_ILN_150
912			\|a GBV_ILN_151
912			\|a GBV_ILN_152
912			\|a GBV_ILN_161
912			\|a GBV_ILN_170
912			\|a GBV_ILN_171
912			\|a GBV_ILN_187
912			\|a GBV_ILN_213
912			\|a GBV_ILN_224
912			\|a GBV_ILN_230
912			\|a GBV_ILN_250
912			\|a GBV_ILN_267
912			\|a GBV_ILN_281
912			\|a GBV_ILN_285
912			\|a GBV_ILN_293
912			\|a GBV_ILN_370
912			\|a GBV_ILN_602
912			\|a GBV_ILN_636
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912			\|a GBV_ILN_2037
912			\|a GBV_ILN_2038
912			\|a GBV_ILN_2039
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2049
912			\|a GBV_ILN_2050
912			\|a GBV_ILN_2055
912			\|a GBV_ILN_2057
912			\|a GBV_ILN_2059
912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2064
912			\|a GBV_ILN_2065
912			\|a GBV_ILN_2068
912			\|a GBV_ILN_2070
912			\|a GBV_ILN_2086
912			\|a GBV_ILN_2088
912			\|a GBV_ILN_2093
912			\|a GBV_ILN_2106
912			\|a GBV_ILN_2107
912			\|a GBV_ILN_2108
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Indexfelder

author_variant	b s t bst g h z ghz w l wl k x kx f c fc q p qp r x z rxz f f z ffz x m l xml b c bc c z cz l s ls h j hj z g l zgl h p d hpd
matchkey_str	article:14321203:2004----::mlhasokrti2mttdnuooadmnncact
hierarchy_sort_str	2004
bklnumber	44.48
publishDate	2004
allfields	10.1007/s00439-004-1218-3 doi (DE-627)SPR006240356 (SPR)s00439-004-1218-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Tang, Bei-sha verfasserin aut Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families. Compound Muscle Action Potential (dpeaa)DE-He213 Axonal Neuropathy (dpeaa)DE-He213 Motor Nerve Conduction Velocity (dpeaa)DE-He213 Anterior Horn Cell (dpeaa)DE-He213 Sensory Nerve Action Potential (dpeaa)DE-He213 Zhao, Guo-hua verfasserin aut Luo, Wei verfasserin aut Xia, Kun verfasserin aut Cai, Fang verfasserin aut Pan, Qian verfasserin aut Zhang, Ru-xu verfasserin aut Zhang, Fu-feng verfasserin aut Liu, Xiao-min verfasserin aut Chen, Biao verfasserin aut Zhang, Cheng verfasserin aut Shen, Lu verfasserin aut Jiang, Hong verfasserin aut Long, Zhi-gao verfasserin aut Dai, He-ping verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 116(2004), 3 vom: 23. Nov., Seite 222-224 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:116 year:2004 number:3 day:23 month:11 pages:222-224 https://dx.doi.org/10.1007/s00439-004-1218-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 116 2004 3 23 11 222-224
spelling	10.1007/s00439-004-1218-3 doi (DE-627)SPR006240356 (SPR)s00439-004-1218-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Tang, Bei-sha verfasserin aut Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families. Compound Muscle Action Potential (dpeaa)DE-He213 Axonal Neuropathy (dpeaa)DE-He213 Motor Nerve Conduction Velocity (dpeaa)DE-He213 Anterior Horn Cell (dpeaa)DE-He213 Sensory Nerve Action Potential (dpeaa)DE-He213 Zhao, Guo-hua verfasserin aut Luo, Wei verfasserin aut Xia, Kun verfasserin aut Cai, Fang verfasserin aut Pan, Qian verfasserin aut Zhang, Ru-xu verfasserin aut Zhang, Fu-feng verfasserin aut Liu, Xiao-min verfasserin aut Chen, Biao verfasserin aut Zhang, Cheng verfasserin aut Shen, Lu verfasserin aut Jiang, Hong verfasserin aut Long, Zhi-gao verfasserin aut Dai, He-ping verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 116(2004), 3 vom: 23. Nov., Seite 222-224 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:116 year:2004 number:3 day:23 month:11 pages:222-224 https://dx.doi.org/10.1007/s00439-004-1218-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 116 2004 3 23 11 222-224
allfields_unstemmed	10.1007/s00439-004-1218-3 doi (DE-627)SPR006240356 (SPR)s00439-004-1218-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Tang, Bei-sha verfasserin aut Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families. Compound Muscle Action Potential (dpeaa)DE-He213 Axonal Neuropathy (dpeaa)DE-He213 Motor Nerve Conduction Velocity (dpeaa)DE-He213 Anterior Horn Cell (dpeaa)DE-He213 Sensory Nerve Action Potential (dpeaa)DE-He213 Zhao, Guo-hua verfasserin aut Luo, Wei verfasserin aut Xia, Kun verfasserin aut Cai, Fang verfasserin aut Pan, Qian verfasserin aut Zhang, Ru-xu verfasserin aut Zhang, Fu-feng verfasserin aut Liu, Xiao-min verfasserin aut Chen, Biao verfasserin aut Zhang, Cheng verfasserin aut Shen, Lu verfasserin aut Jiang, Hong verfasserin aut Long, Zhi-gao verfasserin aut Dai, He-ping verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 116(2004), 3 vom: 23. Nov., Seite 222-224 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:116 year:2004 number:3 day:23 month:11 pages:222-224 https://dx.doi.org/10.1007/s00439-004-1218-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 116 2004 3 23 11 222-224
allfieldsGer	10.1007/s00439-004-1218-3 doi (DE-627)SPR006240356 (SPR)s00439-004-1218-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Tang, Bei-sha verfasserin aut Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families. Compound Muscle Action Potential (dpeaa)DE-He213 Axonal Neuropathy (dpeaa)DE-He213 Motor Nerve Conduction Velocity (dpeaa)DE-He213 Anterior Horn Cell (dpeaa)DE-He213 Sensory Nerve Action Potential (dpeaa)DE-He213 Zhao, Guo-hua verfasserin aut Luo, Wei verfasserin aut Xia, Kun verfasserin aut Cai, Fang verfasserin aut Pan, Qian verfasserin aut Zhang, Ru-xu verfasserin aut Zhang, Fu-feng verfasserin aut Liu, Xiao-min verfasserin aut Chen, Biao verfasserin aut Zhang, Cheng verfasserin aut Shen, Lu verfasserin aut Jiang, Hong verfasserin aut Long, Zhi-gao verfasserin aut Dai, He-ping verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 116(2004), 3 vom: 23. Nov., Seite 222-224 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:116 year:2004 number:3 day:23 month:11 pages:222-224 https://dx.doi.org/10.1007/s00439-004-1218-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 116 2004 3 23 11 222-224
allfieldsSound	10.1007/s00439-004-1218-3 doi (DE-627)SPR006240356 (SPR)s00439-004-1218-3-e DE-627 ger DE-627 rakwb eng 610 ASE 44.48 bkl Tang, Bei-sha verfasserin aut Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families. Compound Muscle Action Potential (dpeaa)DE-He213 Axonal Neuropathy (dpeaa)DE-He213 Motor Nerve Conduction Velocity (dpeaa)DE-He213 Anterior Horn Cell (dpeaa)DE-He213 Sensory Nerve Action Potential (dpeaa)DE-He213 Zhao, Guo-hua verfasserin aut Luo, Wei verfasserin aut Xia, Kun verfasserin aut Cai, Fang verfasserin aut Pan, Qian verfasserin aut Zhang, Ru-xu verfasserin aut Zhang, Fu-feng verfasserin aut Liu, Xiao-min verfasserin aut Chen, Biao verfasserin aut Zhang, Cheng verfasserin aut Shen, Lu verfasserin aut Jiang, Hong verfasserin aut Long, Zhi-gao verfasserin aut Dai, He-ping verfasserin aut Enthalten in Human genetics <Berlin> Berlin : Springer, 1964 116(2004), 3 vom: 23. Nov., Seite 222-224 (DE-627)253723973 (DE-600)1459188-1 1432-1203 nnns volume:116 year:2004 number:3 day:23 month:11 pages:222-224 https://dx.doi.org/10.1007/s00439-004-1218-3 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.48 ASE AR 116 2004 3 23 11 222-224
language	English
source	Enthalten in Human genetics <Berlin> 116(2004), 3 vom: 23. Nov., Seite 222-224 volume:116 year:2004 number:3 day:23 month:11 pages:222-224
sourceStr	Enthalten in Human genetics <Berlin> 116(2004), 3 vom: 23. Nov., Seite 222-224 volume:116 year:2004 number:3 day:23 month:11 pages:222-224
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Compound Muscle Action Potential Axonal Neuropathy Motor Nerve Conduction Velocity Anterior Horn Cell Sensory Nerve Action Potential
dewey-raw	610
isfreeaccess_bool	false
container_title	Human genetics <Berlin>
authorswithroles_txt_mv	Tang, Bei-sha @@aut@@ Zhao, Guo-hua @@aut@@ Luo, Wei @@aut@@ Xia, Kun @@aut@@ Cai, Fang @@aut@@ Pan, Qian @@aut@@ Zhang, Ru-xu @@aut@@ Zhang, Fu-feng @@aut@@ Liu, Xiao-min @@aut@@ Chen, Biao @@aut@@ Zhang, Cheng @@aut@@ Shen, Lu @@aut@@ Jiang, Hong @@aut@@ Long, Zhi-gao @@aut@@ Dai, He-ping @@aut@@
publishDateDaySort_date	2004-11-23T00:00:00Z
hierarchy_top_id	253723973
dewey-sort	3610
id	SPR006240356
language_de	englisch
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author	Tang, Bei-sha
spellingShingle	Tang, Bei-sha ddc 610 bkl 44.48 misc Compound Muscle Action Potential misc Axonal Neuropathy misc Motor Nerve Conduction Velocity misc Anterior Horn Cell misc Sensory Nerve Action Potential Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
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topic_title	610 ASE 44.48 bkl Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L Compound Muscle Action Potential (dpeaa)DE-He213 Axonal Neuropathy (dpeaa)DE-He213 Motor Nerve Conduction Velocity (dpeaa)DE-He213 Anterior Horn Cell (dpeaa)DE-He213 Sensory Nerve Action Potential (dpeaa)DE-He213
topic	ddc 610 bkl 44.48 misc Compound Muscle Action Potential misc Axonal Neuropathy misc Motor Nerve Conduction Velocity misc Anterior Horn Cell misc Sensory Nerve Action Potential
topic_unstemmed	ddc 610 bkl 44.48 misc Compound Muscle Action Potential misc Axonal Neuropathy misc Motor Nerve Conduction Velocity misc Anterior Horn Cell misc Sensory Nerve Action Potential
topic_browse	ddc 610 bkl 44.48 misc Compound Muscle Action Potential misc Axonal Neuropathy misc Motor Nerve Conduction Velocity misc Anterior Horn Cell misc Sensory Nerve Action Potential
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title	Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
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title_full	Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
author_sort	Tang, Bei-sha
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author_browse	Tang, Bei-sha Zhao, Guo-hua Luo, Wei Xia, Kun Cai, Fang Pan, Qian Zhang, Ru-xu Zhang, Fu-feng Liu, Xiao-min Chen, Biao Zhang, Cheng Shen, Lu Jiang, Hong Long, Zhi-gao Dai, He-ping
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title_sort	small heat-shock protein 22 mutated in autosomal dominant charcot-marie-tooth disease type 2l
title_auth	Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
abstract	Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families.
abstractGer	Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families.
abstract_unstemmed	Abstract Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families.
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title_short	Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L
url	https://dx.doi.org/10.1007/s00439-004-1218-3
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author2	Zhao, Guo-hua Luo, Wei Xia, Kun Cai, Fang Pan, Qian Zhang, Ru-xu Zhang, Fu-feng Liu, Xiao-min Chen, Biao Zhang, Cheng Shen, Lu Jiang, Hong Long, Zhi-gao Dai, He-ping
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doi_str	10.1007/s00439-004-1218-3
up_date	2024-07-03T21:43:05.827Z
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Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

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