Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

Limb-girdle muscular dystrophy (LGMD) is a group of genetically heterogeneous disorders characterized by progressive proximal limb muscle weakness and dystrophic features in pathology. As the most prevailing subtype of LGMD, LGMD R1 is caused by recessive mutations in CAPN3 gene. Here we performed a retrospective analysis in recessive CAPN3 mutations identified in Chinese cohort and the database-registered CAPN3 mutations to achieve a worldwide perspective. Two hotspot mutations c.2120A>G in Chinese patients and c.550del in European patients were revealed  and 25% mutations identified in CAPN3 gene were deleterious. These findings may aid in providing information for future gene therapy development. (By Dr. Sushan Luo, https://jmg.bmj.com/content/early/2020/09/28/jmedgenet-2020-107159 )

The neuromuscular research group in Huashan hospital

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