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limb-girdle muscular dystrophy type 2S (LGMD2S)

Pathology: - limb-girdle muscular dystrophy Genetics: - caused by mutations in TRAPPC11 Clinical manifestations: - proximal muscle weakness with childhood onset, resulting in gait ataxia & scapular winging - s subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia & global developmental delay Laboratory: - serum creatine kinase is increased

Database Correlations

OMIM 613158

References

  1. OMIM :accession 615356
  2. UniProt :accession Q7Z392