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
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H. Lochmüller | R. Horvath | M. Faruq | A. Nalini | Pooja Sharma | Aditi Joshi | Malika Seth | A. Töpf | K. Polavarapu | A. Roos | Aradhna Mathur | B. Nandeesh | U. Shamim | A. Vivekanand | Shaista Parveen | S. Vengalil | S. Nashi | M. Bardhan | T. Chawla | V. Preethish-Kumar | G. Arunachal | Leena Shingavi | S. Nayak | P. Sharma | Mainak Bardhan