Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy

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Cai , S , Gao , M , Xi , J , Liu , Z , Yue , D , Wu , H , Bi , H , Li , J , Liang , Z , Zhao , C , Udd , B , Luo , S & Lu , J 2019 , ' Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy ' , Neuromuscular Disorders , vol. 29 , no. 8 , pp. 628-633 . https://doi.org/10.1016/j.nmd.2019.06.005

Title: Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy
Author: Cai, Shuang; Gao, Mingshi; Xi, Jianying; Liu, Zhuo; Yue, Dongyue; Wu, Hui; Bi, Haixia; Li, Jing; Liang, Zonghui; Zhao, Chongbo; Udd, Bjarne; Luo, Sushan; Lu, Jiahong
Contributor: University of Helsinki, Medicum
Date: 2019-08
Language: eng
Number of pages: 6
Belongs to series: Neuromuscular Disorders
ISSN: 0960-8966
URI: http://hdl.handle.net/10138/320961
Abstract: Recessive mutations in anoctamin-5 (ANO5) are causative for limb-girdle muscular dystrophy (LGMD) 2L and non-dysferlin Miyoshi-like distal myopathy (MMD3). ANDS mutations are highly prevalent in European countries; however it is not common in patients of Asian origin, and there is no data regarding the Chinese population. We retrospectively reviewed the clinical manifestations and gene mutations of Chinese patients with anoctaminopathy. A total of five ANDS mutations including four novel mutations and one reported mutation were found in four patients from three families. No hotspot mutation was found. Three patients presented with presymptomatic hyperCKemia and one patient had limb muscle weakness. Muscle imaging of lower limbs showed preferential adductor magnus and medial gastrocnemius involvement. No hotspot mutation has been identified in Chinese patients to date. (C) 2019 Elsevier B.V. All rights reserved.
Subject: Anoctaminopathy
Limb girdle muscular dystrophy
Presymptomatic hyperCKemia
Mutation
Muscle MRI
GIRDLE MUSCULAR-DYSTROPHY
PREVALENCE
MYALGIA
3112 Neurosciences
3124 Neurology and psychiatry
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