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distal myopathy with anterior tibial onset
Genetics:
- autosomal recessive
- associated with defects in dysferlin
Clinical manifestations:
- onset of the disorder is between 14 & 28 years of age
- the anterior tibial muscles are the first muscle group to be involved
Laboratory:
- dysferlin in leukocytes (defective, may or may not be present)
Related
dysferlin; dystrophy-associated fer-1-like protein; fer-1-like protein 1 (DYSF, FER1L1)
General
muscular dystrophy
Database Correlations
OMIM 606768
References
OMIM :accession 606768