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

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Bouldin, AA; Parisi, MA; Laing, N; Patterson, K; Gospe, SM

Published Date

  • February 2007

Published In

Volume / Issue

  • 35 / 2

Start / End Page

  • 254 - 258

PubMed ID

  • 16967490

Pubmed Central ID

  • 16967490

Electronic International Standard Serial Number (EISSN)

  • 1097-4598

International Standard Serial Number (ISSN)

  • 0148-639X

Digital Object Identifier (DOI)

  • 10.1002/mus.20662

Language

  • eng