Axonal Neuropathy with Neuromyotonia

Investigators from the Children's Hospital, Coimbra, Portugal, and centers in Belgium, report a 16-year-old girl with consanguineous parents who presented with progressive distal muscular atrophy and weakness, beginning at age 6 years.

Gespeichert in:

Autor*in:	J Gordon Millichap [verfasserIn] John J Millichap [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2014

Schlagwörter:	clinical myotonia homozygous mutation neuromyotonia

Übergeordnetes Werk:	In: Pediatric Neurology Briefs - Pediatric Neurology Briefs Publishers, 2015, 28(2014), 2, Seite 12-12
Übergeordnetes Werk:	volume:28 ; year:2014 ; number:2 ; pages:12-12

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.15844/pedneurbriefs-28-2-5

Katalog-ID:	DOAJ027127427

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topic_title	RJ1-570 Axonal Neuropathy with Neuromyotonia clinical myotonia homozygous mutation neuromyotonia
topic	misc RJ1-570 misc clinical myotonia misc homozygous mutation misc neuromyotonia misc Pediatrics
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title	Axonal Neuropathy with Neuromyotonia
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title_full	Axonal Neuropathy with Neuromyotonia
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title_sort	axonal neuropathy with neuromyotonia
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title_auth	Axonal Neuropathy with Neuromyotonia
abstract	Investigators from the Children's Hospital, Coimbra, Portugal, and centers in Belgium, report a 16-year-old girl with consanguineous parents who presented with progressive distal muscular atrophy and weakness, beginning at age 6 years.
abstractGer	Investigators from the Children's Hospital, Coimbra, Portugal, and centers in Belgium, report a 16-year-old girl with consanguineous parents who presented with progressive distal muscular atrophy and weakness, beginning at age 6 years.
abstract_unstemmed	Investigators from the Children's Hospital, Coimbra, Portugal, and centers in Belgium, report a 16-year-old girl with consanguineous parents who presented with progressive distal muscular atrophy and weakness, beginning at age 6 years.
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title_short	Axonal Neuropathy with Neuromyotonia
url	https://doi.org/10.15844/pedneurbriefs-28-2-5 https://doaj.org/article/87664738c00645ba996261bedea5015f https://www.pediatricneurologybriefs.com/articles/195 https://doaj.org/toc/1043-3155 https://doaj.org/toc/2166-6482
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up_date	2024-07-04T00:29:13.650Z
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