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, Aradhana Mathur, Aditi Joshi, Saraswati Nashi, Veeramani Preethish‐Kumar, Mainak Bardhan, Pooja Sharma, Shaista Parveen, Malika Seth, Seena Vengalil, Tanushree Chawla, Leena Shingavi, Uzma Shamim, Sushmita Nayak, A Vivekanand, Ana Töpf, Andreas Roos, Rita Horváth, Hanns Lochmüller, Bevinahalli N. Nandeesh, Gautham Arunachal, Atchayaram Nalini, Mohammed Faruq

2021Neurogenetics16 citationsDOI

Topics & Concepts

Limb-girdle muscular dystrophyMuscular dystrophyCongenital myasthenic syndromeMedicineProximal muscle weaknessHypoplasiaCompound heterozygosityRepetitive nerve stimulationMuscle biopsyAnatomyInternal medicineMutationGeneticsBiologyBiopsyMyasthenia gravisGeneReceptorAcetylcholine receptorMyasthenia Gravis and ThymomaCellular transport and secretionUbiquitin and proteasome pathways

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

Topics & Concepts

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