Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy-Reference-Cited by-同舟云学术

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Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy

Published:2019-08 Issue:8 Volume:29 Page:628-633
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12;Jarry;Brain,2007

2. Recessive mutations in the putative calcium-activated chloride channel anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies;Bolduc;Am J Hum Genet,2010

3. Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in french patients;Papadopoulos;Muscle Nerve,2017

4. ANO5-muscular dystrophy: clinical, pathological and molecular findings;Liewluck;Eur J Neurol,2013

5. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients;Magri;Neuromuscul Disord,2012

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1. Identification of potential drug targets for amyotrophic lateral sclerosis by Mendelian randomization analysis based on brain and plasma proteomics;Experimental Gerontology;2024-10

2. Patterns of Clinical Progression Among Patients With Autosomal Recessive Limb-Girdle Muscular Dystrophy: A Systematic Review;Journal of Clinical Neuromuscular Disease;2023-12

3. Distal myopathy;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

4. ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies;Genes & Diseases;2022-11

5. Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review;Genes;2022-09-27

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