Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report
Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independentl...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Bulli, Cristina [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2009 |
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| Schlagwörter: |
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| Anmerkung: |
© Bulli et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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| Übergeordnetes Werk: |
Enthalten in: Cases journal - London : Biomed Central, 2008, 2(2009), 1 vom: 29. Apr. |
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| Übergeordnetes Werk: |
volume:2 ; year:2009 ; number:1 ; day:29 ; month:04 |
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| DOI / URN: |
10.1186/1757-1626-2-7111 |
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| 520 | |a Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome. | ||
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10.1186/1757-1626-2-7111 doi (DE-627)SPR031091881 (SPR)1757-1626-2-7111-e DE-627 ger DE-627 rakwb eng Bulli, Cristina verfasserin aut Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bulli et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome. Clubfoot (dpeaa)DE-He213 Silver Russell Syndrome (dpeaa)DE-He213 CLCN1 Gene (dpeaa)DE-He213 Postnatal Growth Retardation (dpeaa)DE-He213 CLCN1 Mutation (dpeaa)DE-He213 Battistella, Pier Antonio aut Bordignon, Marta aut Bramanti, Placido aut Novelli, Giuseppe aut Sangiuolo, Federica aut Enthalten in Cases journal London : Biomed Central, 2008 2(2009), 1 vom: 29. Apr. (DE-627)569611202 (DE-600)2431132-7 1757-1626 nnns volume:2 year:2009 number:1 day:29 month:04 https://dx.doi.org/10.1186/1757-1626-2-7111 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2009 1 29 04 |
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10.1186/1757-1626-2-7111 doi (DE-627)SPR031091881 (SPR)1757-1626-2-7111-e DE-627 ger DE-627 rakwb eng Bulli, Cristina verfasserin aut Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bulli et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome. Clubfoot (dpeaa)DE-He213 Silver Russell Syndrome (dpeaa)DE-He213 CLCN1 Gene (dpeaa)DE-He213 Postnatal Growth Retardation (dpeaa)DE-He213 CLCN1 Mutation (dpeaa)DE-He213 Battistella, Pier Antonio aut Bordignon, Marta aut Bramanti, Placido aut Novelli, Giuseppe aut Sangiuolo, Federica aut Enthalten in Cases journal London : Biomed Central, 2008 2(2009), 1 vom: 29. Apr. (DE-627)569611202 (DE-600)2431132-7 1757-1626 nnns volume:2 year:2009 number:1 day:29 month:04 https://dx.doi.org/10.1186/1757-1626-2-7111 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2009 1 29 04 |
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10.1186/1757-1626-2-7111 doi (DE-627)SPR031091881 (SPR)1757-1626-2-7111-e DE-627 ger DE-627 rakwb eng Bulli, Cristina verfasserin aut Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bulli et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome. Clubfoot (dpeaa)DE-He213 Silver Russell Syndrome (dpeaa)DE-He213 CLCN1 Gene (dpeaa)DE-He213 Postnatal Growth Retardation (dpeaa)DE-He213 CLCN1 Mutation (dpeaa)DE-He213 Battistella, Pier Antonio aut Bordignon, Marta aut Bramanti, Placido aut Novelli, Giuseppe aut Sangiuolo, Federica aut Enthalten in Cases journal London : Biomed Central, 2008 2(2009), 1 vom: 29. Apr. (DE-627)569611202 (DE-600)2431132-7 1757-1626 nnns volume:2 year:2009 number:1 day:29 month:04 https://dx.doi.org/10.1186/1757-1626-2-7111 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2009 1 29 04 |
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10.1186/1757-1626-2-7111 doi (DE-627)SPR031091881 (SPR)1757-1626-2-7111-e DE-627 ger DE-627 rakwb eng Bulli, Cristina verfasserin aut Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bulli et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome. Clubfoot (dpeaa)DE-He213 Silver Russell Syndrome (dpeaa)DE-He213 CLCN1 Gene (dpeaa)DE-He213 Postnatal Growth Retardation (dpeaa)DE-He213 CLCN1 Mutation (dpeaa)DE-He213 Battistella, Pier Antonio aut Bordignon, Marta aut Bramanti, Placido aut Novelli, Giuseppe aut Sangiuolo, Federica aut Enthalten in Cases journal London : Biomed Central, 2008 2(2009), 1 vom: 29. Apr. (DE-627)569611202 (DE-600)2431132-7 1757-1626 nnns volume:2 year:2009 number:1 day:29 month:04 https://dx.doi.org/10.1186/1757-1626-2-7111 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2009 1 29 04 |
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10.1186/1757-1626-2-7111 doi (DE-627)SPR031091881 (SPR)1757-1626-2-7111-e DE-627 ger DE-627 rakwb eng Bulli, Cristina verfasserin aut Recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Bulli et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome. Clubfoot (dpeaa)DE-He213 Silver Russell Syndrome (dpeaa)DE-He213 CLCN1 Gene (dpeaa)DE-He213 Postnatal Growth Retardation (dpeaa)DE-He213 CLCN1 Mutation (dpeaa)DE-He213 Battistella, Pier Antonio aut Bordignon, Marta aut Bramanti, Placido aut Novelli, Giuseppe aut Sangiuolo, Federica aut Enthalten in Cases journal London : Biomed Central, 2008 2(2009), 1 vom: 29. Apr. (DE-627)569611202 (DE-600)2431132-7 1757-1626 nnns volume:2 year:2009 number:1 day:29 month:04 https://dx.doi.org/10.1186/1757-1626-2-7111 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_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 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_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2009 1 29 04 |
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recessive congenital myotonia resulting from maternal isodisomy of chromosome 7: a case report |
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Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome. © Bulli et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome. © Bulli et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Abstract Autosomal dominant (Thomsen) and recessive (Becker) congenital myotonia are two different non dystrophic disorders, due to allelic mutations of the muscle chloride channel gene, located on chromosome 7q35. More than two thirds of the muscle chloride channel gene mutations occur independently in unique families and cause the recessive form of the disease. Becker disease is more common and severe than Thomsen disease. Here, we report on the clinical and molecular data of the first patient with maternal uniparental disomy for chromosome 7 and recessive congenital myotonia. The proband is a 15-year-old male, homozygous for a missense mutation within muscle chloride channel gene, showing few characteristic signs of the Silver Russell Syndrome. © Bulli et al; licensee Cases Network Ltd. licensee BioMed Central Ltd. 2009. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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7.400509 |