A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle m...
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
About this item
Full title
Author / Creator
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 and Faruq, Mohammed
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
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 genet...
Alternative Titles
Full title
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
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2557535448
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2557535448
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-021-00658-1
