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Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene
Author(s) -
Bouldin Anthony A.,
Parisi Melissa A.,
Laing Nigel,
Patterson Kathleen,
Gospe Sidney M.
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20662
Subject(s) - nemaline myopathy , missense mutation , myopathy , etiology , mutation , genetics , gene mutation , congenital myopathy , medicine , gene , biology , pathology , muscle biopsy , biopsy
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