title: 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.
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, University of Washington, Children's Hospital and Regional Medical Center, Seattle, Washington 98105, USA. tony.bouldin@seattlechildrens.org
authors.forename: Anthony A
authors.initials: AA
authors.lastname: Bouldin
authors.forename: Melissa A
authors.initials: MA
authors.lastname: Parisi
authors.forename: Nigel
authors.initials: N
authors.lastname: Laing
authors.forename: Kathleen
authors.initials: K
authors.lastname: Patterson
authors.forename: Sidney M
authors.initials: SM
authors.lastname: Gospe
mesh_terms: D000199:Actins / Q000235:genetics*; D000328:Adult; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D006801:Humans; D007223:Infant; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009154:Mutation; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology; D010649:Phenylalanine / Q000235:genetics; D013194:Staining and Labeling / Q000379:methods
chemical_list: D000199:Actins; D010649:Phenylalanine; D003545:Cysteine