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Definition

An autosomal recessive degenerative myopathy characterized by pelvic girdle, shoulder girdle and quadriceps muscle weakness. Clinical phenotype and severity are highly variable. Disease progression is slow and most patients remain ambulatory into the sixth decade of life.

Acronym

LGMDR8

Synonyms

LGMD2H
Limb-girdle muscular dystrophy 2H
Muscular dystrophy, limb-girdle, type 2H
Muscular dystrophy Hutterite type
Sarcotubular myopathy

Keywords

Limb-girdle muscular dystrophy

 
Disclaimer

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