Congenital muscular dystrophyGene: GGPS1
11 individuals from 6 unrelated families reported. In addition to proximal weakness, all but one patient presented with congenital sensorineural hearing loss, and all postpubertal females had primary ovarian insufficiency. Muscle histology was dystrophic, with ultrastructural evidence of autophagic material and large mitochondria in the most severe cases. Knock-in mouse of one of the mutations (Y259C) resulted in prenatal lethality.
Created: 8 Jul 2020, 12:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy; Deafness; Ovarian insufficiency
Variants in this GENE are reported as part of current diagnostic practice
gene: GGPS1 was added gene: GGPS1 was added to Congenital muscular dystrophy. Sources: Literature Mode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GGPS1 were set to 32403198 Phenotypes for gene: GGPS1 were set to Muscular dystrophy; Deafness; Ovarian insufficiency Review for gene: GGPS1 was set to GREEN gene: GGPS1 was marked as current diagnostic