In:
American Journal of Medical Genetics Part A, Wiley, Vol. 194, No. 4 ( 2024-04)
Abstract:
Congenital muscular dystrophies are a group of progressive disorders with wide range of symptoms associated with diverse cellular mechanisms. Recently, biallelic variants in GGPS1 were linked to a distinct autosomal recessive form of muscular dystrophy associated with hearing loss and ovarian insufficiency. In this report, we present a case of a young patient with a homozygous variant in GGPS1 . The patient presented with only proximal muscle weakness, and elevated liver transaminases with spared hearing function. The hepatic involvement in this patient caused by a novel deleterious variant in the gene extends the phenotypic and genotypic spectrum of GGPS1 related muscular dystrophy.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v194.4
DOI:
10.1002/ajmg.a.63498
Language:
English
Publisher:
Wiley
Publication Date:
2024
detail.hit.zdb_id:
1493479-6
SSG:
12