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A Novel Mutation in the PYGM Gene Resulting in Mcardle Disease

Journal: Journal of Endocrine Disorders (Vol.1, No. 2)

Publication Date:

Authors : ; ; ; ;

Page : 1-3

Keywords : Mcardle disease; Myophosphorylase deficiency; Mutation;

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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.

Last modified: 2017-03-14 20:04:29