title: Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
abstract: We report a family with a new phenotype of autosomal recessive muscle dystrophy caused by a dysferlin mutation. The onset of the illness is distal, in the muscles of the anterior compartment group. The disease is rapidly progressive, leading to severe proximal weakness. Muscle biopsy showed moderate dystrophic changes with no vacuoles. Dysferlin immunostaining was negative. Gene analysis revealed a frameshift mutation in the exon 50 (delG5966) of the DYSF gene. This phenotype further demonstrates the clinical heterogeneity of the dysferlinopathies.
authors.affiliation: Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain. iilla@hsp.santpau.es
authors.forename: I
authors.initials: I
authors.lastname: Illa
authors.forename: C
authors.initials: C
authors.lastname: Serrano-Munuera
authors.forename: E
authors.initials: E
authors.lastname: Gallardo
authors.forename: A
authors.initials: A
authors.lastname: Lasa
authors.forename: R
authors.initials: R
authors.lastname: Rojas-García
authors.forename: J
authors.initials: J
authors.lastname: Palmer
authors.forename: P
authors.initials: P
authors.lastname: Gallano
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: C
authors.initials: C
authors.lastname: Matsuda
authors.forename: R H
authors.initials: RH
authors.lastname: Brown
mesh_terms: D000328:Adult; D000868:Anterior Compartment Syndrome / Q000235:genetics* / Q000473:pathology; D000073939:Dysferlin; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D009124:Muscle Proteins / Q000235:genetics*; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins