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. (2021)
Attributed to:
Exosomal protein deficiencies: how abnormal RNA metabolism results in childhood-onset neurological diseases
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1007/s10048-021-00658-1
PubMed Identifier: 34333724
Publication URI: http://europepmc.org/abstract/MED/34333724
Type: Journal Article/Review
Volume: 22
Parent Publication: Neurogenetics
Issue: 4
ISSN: 1364-6745