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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.
AuthorsAnthony A Bouldin, Melissa A Parisi, Nigel Laing, Kathleen Patterson, Sidney M Gospe Jr
JournalMuscle & nerve (Muscle Nerve) Vol. 35 Issue 2 Pg. 254-8 (Feb 2007) ISSN: 0148-639X [Print] United States
PMID16967490 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Actins
  • Phenylalanine
  • Cysteine
Topics
  • Actins (genetics)
  • Adult
  • Cysteine (genetics)
  • DNA Mutational Analysis
  • Family Health
  • Humans
  • Infant
  • Male
  • Muscle Fibers, Skeletal (pathology)
  • Mutation
  • Myopathies, Nemaline (genetics, pathology)
  • Phenylalanine (genetics)
  • Staining and Labeling (methods)

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