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Course: Segmental Uniparental Isodisomy Causing an “Inside-to-Outside” Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1

CME Credits: 1.00

Released: 2023-05-22

A 52-year-old woman presented to the neuromuscular clinic for assessment of limb-girdle weakness. She had been using a walker for the last 2½ years and occasionally used a wheelchair. She had nonconsanguineous parents, 4 unaffected relatives, and no family history of neuromuscular disease. She achieved normal developmental milestones, had learning difficulties at primary school, and was “clumsy” at sports. In her early 20s, she began developing slowly progressive lower limb more so than upper limb weakness.


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