title: Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation.
abstract: A twenty-year old male presented with diffuse limb muscle weakness and exertional dyspnea since childhood. The diagnosis of nemaline myopathy was given based on the muscle pathology findings that revealed nemaline rods on light and electron microscopy and discovery of a novel mutation, E239K, in ACTA1. Incidentally, the patient had hypertrophic cardiomyopathy (HCM) as shown by echocardiography. In nemaline myopathy, a few cases of HCM have been reported, albeit rarely and always fatal, but only one patient had ACTA1 mutation. This present report describes an infantile onset of nemaline myopathy with a milder clinical course and non-fatal HCM as compared with previous cases, showing clinical diversity in skeletal and cardiac manifestations of conditions associated with ACTA1 mutations.
authors.affiliation: Department of Neurology, Ulsan University College of Medicine, Ulsan, Republic of Korea.
authors.forename: Sun-Young
authors.initials: SY
authors.lastname: Kim
authors.forename: Young-Eun
authors.initials: YE
authors.lastname: Park
authors.forename: Hyang-Sook
authors.initials: HS
authors.lastname: Kim
authors.forename: Chang-Hoon
authors.initials: CH
authors.lastname: Lee
authors.forename: Dong Heon
authors.initials: DH
authors.lastname: Yang
authors.forename: Dae-Seong
authors.initials: DS
authors.lastname: Kim
mesh_terms: D000199:Actins / Q000235:genetics*; D000595:Amino Acid Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D008239:Lysine / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D017696:Myopathies, Nemaline / Q000150:complications / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D000199:Actins; D018698:Glutamic Acid; D008239:Lysine