Article
Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B.
Neurosciences (Riyadh, Saudi Arabia) - 1 Jul 2020
Aldosari Khalid H, Al-Ghamdi Sameer, Alkhathlan Khalid M, Alkhalidi Hisham M
Abstract excerpt
Dysferlinopathies are rare autosomal recessive muscular dystrophies caused by mutation in the dysferlin (DYSF) gene, resulting in varied phenotype. In this case report, we review a 26-year-old diabetic male patient who presented to hospital suffering from progressive muscle weakness. We confirmed the diagnosis of dysferlinopathy with phenotype of limb girdle muscular dystrophy, followed by a muscle biopsy,...
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