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
Titel:
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
Auteur:
Polavarapu, Kiran Mathur, Aradhna Joshi, Aditi Nashi, Saraswati Preethish-Kumar, Veeramani Bardhan, Mainak Sharma, Pooja Parveen, Shaista Seth, Malika Vengalil, Seena Chawla, Tanushree Shingavi, Leena Shamim, Uzma Nayak, Sushmita Vivekanand, A. Töpf, Ana Roos, Andreas Horvath, Rita Lochmüller, Hanns Nandeesh, Bevinahalli Arunachal, Gautham Nalini, Atchayaram Faruq, Mohammed