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.

doi:10.1007/s10048-021-00658-1

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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.

Neurogenetics - 1 Oct 2021

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

Abstract excerpt

Twelve patients from seven unrelated South Indian families with a limb-girdle muscular dystrophy-congenital myasthenic syndrome (LGMD/CMS) phenotype and recessive inheritance underwent deep clinical phenotyping, electrophysiological evaluation, muscle histopathology, and next-generation sequencing/Sanger sequencing-based identification of the genetic defect. Homozygosity mapping was performed using...

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PMID: 34333724
DOI: 10.1007/s10048-021-00658-1

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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.PMID 34333724Read ↗

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