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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-03-2010
Symbol MMD1
Location 2p13.2
Name Miyoshi myopathy 1
Other name(s) distal muscular dystrophy, early adult type II
Corresponding gene DYSF
Other symbol(s) EDMD3
Main clinical features
  • characterized by an onset in the late adolescence or early adulthood, early and predominant involvement of posterior calves, marked elevation of serum CK, dystrophic features in muscle biopsy, a slowly progressive course in the majority of patients
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name dysferlin (DYSF)
    Remark(s) allelic to LGMD2B, with the same mutation of dysferlin giving alternatively cases differing by the primary muscle involvement, i.e distal (EDM3) or proximal (LGMD2B)