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A novel syndrome of episodic muscle weakness maps to xp22.3.

Abstract：

:We describe a family with a novel disorder characterized by episodic muscle weakness and X-linked inheritance. Eight males in three generations demonstrate the characteristic features of the disorder. Episodes of severe muscle weakness are typically precipitated by febrile illness and affect the facial and extraocular musculature, as well as the trunk and limbs, and resolve spontaneously over a period of weeks to months. Younger members of the family are normal between episodes but during relapses show generalized weakness, ptosis, and fluctuations in strength. In some cases, fatigability can be demonstrated. The proband has late-onset chronic weakness and fatigability. The clinical phenotype has features suggestive both of the congenital myasthenic syndromes and of ion-channel disorders such as the periodic paralyses. We have localized the responsible gene to chromosome Xp22.3, with a maximum two-point LOD score of 4. 52 at a recombination fraction of.0, between OACA2 and DXS9985.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Ryan MM,Taylor P,Donald JA,Ouvrier RA,Morgan G,Danta G,Buckley MF,North KN

doi

10.1086/302588

subject

Has Abstract

pub_date

1999-10-01 00:00:00

pages

1104-13

issue

4

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62614-7

journal_volume

65

pub_type

杂志文章

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