A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
Hamed Hesami,
Serwa Ghasemi,
Golnaz Houshmand
et al.
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 dysferlin gene (DYSF) has been associated with LGMD.
Methods
We characterized a recessive LGMD in a young adult from consanguineous Irani families using whole-exome s… Show more
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