Article
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
American journal of medical genetics. Part A - 1 Feb 2022
Khan Kamal, Mehmood Sarmad, Liu Chunyu, Siddiqui Maimoona, Ahmad Arsalan, Faiz Belqees Yawar, Chioza Barry A, Baple Emma A, Ullah Muhammad I, Akram Zaineb, Satti Humayoon S, Khan Raees, Harlalka Gaurav V, Jameel Muhammad, Akram Talia, Baig Shahid M, Crosby Andrew H, Hassan Muhammad J, Zhang Feng, Davis Erica E, Khan Tahir N
Abstract excerpt
Autosomal recessive limb-girdle muscular dystrophy-1 (LGMDR1) is an autosomal recessive disorder characterized by progressive weakness of the proximal limb and girdle muscles. Biallelic mutations in CAPN3 are reported frequently to cause LGMDR1. Here, we describe 11 individuals from three unrelated consanguineous families that present with typical features of LGMDR1 that include proximal muscle wasting, weakness...
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