Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
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.
Illa
I
I
Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain. iilla@hsp.santpau.es
Serrano-Munuera
C
C
Gallardo
E
E
Lasa
A
A
Rojas-García
R
R
Palmer
J
J
Gallano
P
P
Baiget
M
M
Matsuda
C
C
Brown
R H
RH
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
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins