
Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports
Author(s) -
Wenjuan Wu,
Suzhen Sun,
Bao-Guang Li
Publication year - 2022
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.v10.i3.1056
Subject(s) - missense mutation , mutation , medicine , congenital muscular dystrophy , gene mutation , muscular dystrophy , epilepsy , white matter , dystrophy , gene , genetics , compound heterozygosity , pathology , magnetic resonance imaging , biology , radiology , psychiatry