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autosomal recessive limb-girdle muscular dystrophy type 2F

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
Uniprot Description An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex.
Mondo Term and Equivalent IDs
MONDO:0011028:  autosomal recessive limb-girdle muscular dystrophy type 2F
GARD:0008573: 
MESH:C535896: 
Orphanet:219: 
SCTID:718177001: