A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties-Reference-Cited by-同舟云学术

A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties

Published:2017-05 Issue:5 Volume:27 Page:477-480
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Kadoya Masato,Ogata Katsuhisa,Suzuki Mikiya,Honma Yutaka,Momma Kazunari,Yatabe Kana,Tamura Takuhisa,Kaida Kenichi,Miyata Naomasa,Nishino Ichizo,Nonaka Ikuya,Kawai Mitsuru

Funder

Intramural Research Grant

Publisher

Elsevier BV

Subject

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

Reference11 articles.

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

3. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5;Penttilä;Neurology,2012

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

5. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression;Witting;J Neurol,2013

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1. Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease;Frontiers in Genetics;2023-10-13

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

3. Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent;Neurology India;2022

4. A Journey with LGMD: From Protein Abnormalities to Patient Impact;The Protein Journal;2021-06-10

5. Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy;Neuromuscular Disorders;2019-08