title: Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
abstract: Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease. We have previously reported a nonspecific distal myopathy caused by homozygous missense mutations in the nebulin gene in six Finnish patients from four different families. Here we describe three non-Finnish patients in two unrelated families with distal nemaline myopathy caused by four different compound heterozygous nebulin mutations, only one of which is a missense mutation. One of the mutations has previously been identified in one family with the severe form of nemaline myopathy. We conclude that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum. Nemaline myopathy should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distal myopathy.
authors: The Folkhälsan Institute of Genetics and The Department of Medical Genetics, University of Helsinki, Haartman Institute, Finland.
authors: Vilma-Lotta
authors: VL
authors: Lehtokari
authors: Katarina
authors: K
authors: Pelin
authors: Agnes
authors: A
authors: Herczegfalvi
authors: Veronika
authors: V
authors: Karcagi
authors: Jean
authors: J
authors: Pouget
authors: Jerôme
authors: J
authors: Franques
authors: Jean François
authors: JF
authors: Pellissier
authors: Dominique
authors: D
authors: Figarella-Branger
authors: Maja
authors: M
authors: von der Hagen
authors: Angela
authors: A
authors: Huebner
authors: Benedikt
authors: B
authors: Schoser
authors: Hanns
authors: H
authors: Lochmüller
authors: Carina
authors: C
authors: Wallgren-Pettersson
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D049310:Distal Myopathies / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D005602:France; D006801:Humans; D006814:Hungary; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
chemical_list: D009124:Muscle Proteins; C035620:nebulin