Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.

Abstract:

:Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair illustrates the clinical variability of nemaline myopathy, highlighting the possible influence of environmental and epigenetic factors. Implications for the current classification system and prognosis are discussed.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Bouldin AA,Parisi MA,Laing N,Patterson K,Gospe SM Jr

doi

10.1002/mus.20662

subject

Has Abstract

pub_date

2007-02-01 00:00:00

pages

254-8

issue

2

eissn

0148-639X

issn

1097-4598

journal_volume

35

pub_type

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