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limb-girdle muscular dystrophy type 2H; muscular dystrophy Hutterite type (LGMD2H)

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

Database Correlations

OMIM 254110

References

  1. UniProt :accession Q13049
  2. OMIM :accession 254110