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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 | POPDC3 |
Zornitza Stark changed review comment from: 5 affected individuals from 3 unrelated families reported, supportive animal model data. Sources: Literature; to: 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: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 | POPDC3 | Zornitza Stark Marked gene: POPDC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 | POPDC3 | Zornitza Stark Gene: popdc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 | POPDC3 | Zornitza Stark Classified gene: POPDC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.59 | POPDC3 | Zornitza Stark Gene: popdc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.58 | POPDC3 |
Zornitza Stark 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 Added comment: 5 affected individuals from 3 unrelated families reported, supportive animal model data. Sources: Literature |
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