Homozygous missense variant in POPDC3 causes recessive limb‐girdle muscular dystrophy type 26

Limb‐girdle muscular dystrophy (LGMD) comprises a heterogeneous group of diseases, affecting different muscles, predominantly skeletal muscles and cardiac muscles of the body. LGMD is classified into two main subtypes A and B, which are further subclassified into eight dominant and thirty recessive subtypes. Three genes, namely POPDC1, POPDC2 and POPDC3, encode popeye domain‐containing protein (POPDC), and the variants of POPDC1 and POPDC3 genes have been associated with LGMD.

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