Open AccessHomozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report
Author(s) -
Ming Yang,
Ruxin Xing
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i19.5226
Subject(s) - medicine , exon , chinese family , muscular dystrophy , genetics , congenital muscular dystrophy , gene , biology
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Mutations in the CRPPA gene (encoding CDPLribitol pyrophosphorylase A) are recognized as causative factors of dystroglycanopathies, a subtype of CMD with defects in glycosylation.