Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

Muscular involvement and tendon contracture in limb-girdle muscular dystrophy 2Y: a mild adult phenotype and literature review

Abstract 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-associate...

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Bibliographic Details
Main Authors: Xuelin Feng, Jinlang Wu, Wenbiao Xian, Bing Liao, Songjie Liao, Xiaoli Yao, Weixi Zhang
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Musculoskeletal Disorders
Subjects:
LGM2Y
LAP1
Nuclear envelopathies
Tendon contracture
Case report
Online Access:http://link.springer.com/article/10.1186/s12891-020-03616-4

Internet

http://link.springer.com/article/10.1186/s12891-020-03616-4

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