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

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

Abstract 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 dysfe...

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Bibliographic Details
Main Authors: Hamed Hesami, Serwa Ghasemi, Golnaz Houshmand, Yalda Nilipour, Mahshid Hesami, Alireza Biglari, Shahriar Nafissi, Majid Maleki, Samira Kalayinia
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Musculoskeletal Disorders
Subjects:
DYSF
Limb-girdle muscular dystrophy
Dysferlin
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s12891-024-07354-9

Internet

https://doi.org/10.1186/s12891-024-07354-9

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