ArticleNeurogenetics2021

A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

Kiran Polavarapu et al.PubMed ↗Publisher ↗

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