Article
Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
Physiological reports - 1 Dec 2023
Chen Yen-Lin, Wu Wen-Bin, Wang Pei, Yip Ping-Keung, Wu Yi-No, Lin Ying-Hung, Lin Wei-Ning
Abstract excerpt
Muscular dystrophy (MD) is a genetic disorder that causes progressive muscle weakness and degeneration. Limb-girdle muscular dystrophy (LGMD) is a type of MD that mainly causes muscle atrophy within the shoulder and pelvic girdles. LGMD is classified into autosomal dominant (LGMD-D) and autosomal recessive (LGMD-R) inheritance patterns. Mutations in the Dysferlin gene (DYSF) are common causes of LGMD-R. However,...
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