Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: DPM3
Dolichol-phosphate-mannose is a mannosyl donor important for the biosynthesis of various glycoconjugates. Bi-allelic variants have predominantly been reported in association with a limb-girdle muscular dystrophy phenotype, although one individual reported with CNS involvement (PMID 31469168).Created: 28 Nov 2020, 5:07 a.m. | Last Modified: 28 Nov 2020, 5:07 a.m.
Panel Version: 0.5496
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992
Publications
>3 cases with limb girdle muscular dystrophy, adult onset reported.
Sources: Expert ReviewCreated: 25 Feb 2020, 12:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937
Publications
Gene: dpm3 has been classified as Green List (High Evidence).
Gene: dpm3 has been classified as Green List (High Evidence).
gene: DPM3 was added gene: DPM3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 19576565; 28803818; 31266720 Phenotypes for gene: DPM3 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937 Review for gene: DPM3 was set to GREEN