Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness

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LGMD2H is an autosomal recessive form of limb-girdle muscular dystrophy and was first identified through a founder mutation in the reproductively isolated Hutterite population. Since the detection of this mutation, other variants in TRIM32 have also been associated with LGMD2H in non-Hutterite populations. Patients typically present with a variable phenotype and age of onset, with a mildly increased serum creatine kinase and a slowly progressive proximal weakness with atrophy. Considering the phenotypic overlap with other muscular dystrophies, a clinical diagnosis for LGMD2H can often be difficult to achieve.

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