Diagnosis and genetic testing analysis of limb-girdle muscular dystrophy type 2U caused by a compound heterozygous mutation in the ISPD gene.

Abstract excerpt

Limb-girdle muscular dystrophy (LGMD), a rare group of non-congenital inherited muscle diseases, is characterized by a progressive reduction in muscle tone and force of the proximal limbs. The clinical manifestations and genetic patterns of LGMD are heterogeneous. This study reported on a 10-year-old male patient with LGMD type 2U who experienced muscle weakness in the lower limbs after exercise. Upon admission,...

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