𝔖 Bobbio Scriptorium
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Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene

✍ Scribed by Anthony A. Bouldin; Melissa A. Parisi; Nigel Laing; Kathleen Patterson; Sidney M. Gospe Jr.

Book ID
102533728
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
196 KB
Volume
35
Category
Article
ISSN
0148-639X

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✦ Synopsis

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. Muscle Nerve, 2006

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Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder of skeletal muscle caused by mutations in at least five different genes encoding thin filament proteins of the striated muscle sarcomere. We have previously described 18 different mutations in the last 42 exons of the nebu