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Article

A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.

BMC musculoskeletal disorders - 27 Mar 2024

Hesami Hamed, Ghasemi Serwa, Houshmand Golnaz, Nilipour Yalda, Hesami Mahshid, Biglari Alireza, Nafissi Shahriar, Maleki Majid, Kalayinia Samira

Abstract excerpt

BACKGROUND: Limb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical presentation and overlapping traits. The clinical symptoms of LGMD typically appear in adolescence or early adulthood. Genetic variation in the dysferlin gene (DYSF) has been associated with LGMD. METHODS: We characterized a recessive LGMD in a young adult from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38539162
DOI: 10.1186/s12891-024-07354-9
PMCID: PMC10967161

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