A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.

doi:10.1186/s40246-025-00771-4

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Article

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.

Human genomics - 13 May 2025

Khalilian Sheyda, Fathi Mohadeseh, Tangestani Raheleh, Larki Pegah, Sayad Arezou, Ghafouri-Fard Soudeh, Miryounesi Mohammad

Abstract excerpt

Limb-girdle muscular dystrophies (LGMD) designate diverse types of muscular dystrophies that predominantly affect proximal skeletal muscles. Although both autosomal recessive and dominant forms exist, the majority of cases are inherited in an autosomal recessive manner. Since the spectrum of genetic variants that cause this disorder is quite broad, next-generation sequencing techniques are the best diagnostic...