limb-girdle muscular dystrophy type 2H; muscular dystrophy Hutterite type (LGMD2H)
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Genetics
- autosomal recessive
- associated with defects in TRIM32 are the cause of
Clinical manifestations
- pelvic girdle, shoulder girdle & quadriceps muscle weakness
- clinical phenotype & severity are highly variable
- disease progression is slow & most patients remain ambulatory into the 6th decade of life