A Novel Mutation in the PYGM Gene Resulting in Mcardle Disease

Mcardle disease, which is caused by an inherited deficit of myophosphorylase consequent to defects in the PYGM gene, is a pure autosomal recessive disorder. Official figures manifest that over-133 known mutations are associated with this disorder, only a minority of which have racial diversity. Here, we identified a novel mutation, 437T > C, in the case of a 70-year-old male patient with a lifelong history of fatigability, worsening on exertion. The presence of Mcardle disease was supported by a fresh muscle biopsy and confirmed by myophosphorylase activity assay. This possibly ethnicity-associated mutation may significantly facilitate the prediction and diagnosis of Mcardle disease in the region.