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Autosomal dominant limb-girdle muscular dystrophy type 1G
rareAutosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.
- Identifiers
- MONDO:0012193 OMIM:609115Orphanet:55596
- Causal genes
- HNRNPDL
- Also known as
- autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL · HNRNPDL autosomal dominant limb-girdle muscular dystrophy · LGMD1G · limb-girdle muscular dystrophy type 1G · limb-girdle muscular dystrophy, type 1G
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