Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.
Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM) are autosomal recessive disorders caused by mutations in the dysferlin gene on chromosome 2p13. The authors studied a large Russian family with both LGMD2B and MM. All affected individuals, as well as one preclinical boy with dystrophic changes on muscle biopsy, were found to be homozygous for a novel dysferlin mutation, TG573/574AT (Val67Asp). This finding supports the view that additional factors (e.g., modifier genes) contribute to the phenotypic expression of causative mutations in dysferlinopathies.
Illarioshkin
S N
SN
Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow, Russia. neurogen@online.ru
Ivanova-Smolenskaya
I A
IA
Greenberg
C R
CR
Nylen
E
E
Sukhorukov
V S
VS
Poleshchuk
V V
VV
Markova
E D
ED
Wrogemann
K
K
D000328:Adult; D002648:Child; D000073939:Dysferlin; D005260:Female; D006801:Humans; 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