Article
Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review.
BMC musculoskeletal disorders - 1 Sept 2020
Feng Xuelin, Wu Jinlang, Xian Wenbiao, Liao Bing, Liao Songjie, Yao Xiaoli, Zhang Weixi
Abstract excerpt
BACKGROUND: Limb girdle muscular dystrophy type 2Y (LGMD2Y) is a rare subgroup of limb girdle muscular dystrophy featuring limb-girdle weakness, tendon contracture and cardiac involvement. It is caused by the mutation of TOR1AIP1, which encodes nuclear membrane protein LAP1 (lamina-associated polypeptide 1) and comprises heterogeneous phenotypes. The present study reported a patient with a novel homozygous...
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