Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: POPDC3
5 affected individuals from 3 unrelated families reported, supportive animal model data. Presentation was between adolescence and 40s with proximal muscle weakness primarily affecting the lower limbs, resulting in increased falls and difficulty running. The disorder was slowly progressive, with later involvement of the upper limbs. MRI showed fatty replacement of the thigh muscles and medial gastrocnemius, with some paraspinal muscles also affected. Some patients had calf hypertrophy. Serum CK was markedly elevated.
Sources: LiteratureCreated: 19 Jun 2021, 2:11 a.m. | Last Modified: 19 Jun 2021, 2:24 a.m.
Panel Version: 0.59
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848
Publications
Gene: popdc3 has been classified as Green List (High Evidence).
Gene: popdc3 has been classified as Green List (High Evidence).
gene: POPDC3 was added gene: POPDC3 was added to Limb Girdle Muscular Dystrophy. Sources: Literature Mode of inheritance for gene: POPDC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POPDC3 were set to 31610034 Phenotypes for gene: POPDC3 were set to Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848 Review for gene: POPDC3 was set to GREEN