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Article

Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia.

Journal of back and musculoskeletal rehabilitation - 1 Jan 2018

Algahtani Hussein, Shirah Bader, Alassiri Ali H, Habib Ben Attia, Almuhanna Rakan, Ahamed Mohamed Firoze

Abstract excerpt

Dysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance. In this article, we report a case of Limb-girdle muscular dystrophy type 2B with a rare homozygous duplication c.164dupA, p.(Ile57Hisfs*8) (rs863225020) in DYSF in a...

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Identifiers

PMID: 29966189
DOI: 10.3233/BMR-181129

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DYSF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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