ANO5 mutations in the Dutch limb girdle muscular dystrophy population-Reference-Cited by-同舟云学术

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ANO5 mutations in the Dutch limb girdle muscular dystrophy population

Published:2013-06 Issue:6 Volume:23 Page:456-460
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

van der Kooi Anneke J.,ten Dam Leroy,Frankhuizen Wendy S.,Straathof Chiara S.M.,van Doorn Pieter A.,de Visser Marianne,Ginjaar Ieke B.

Publisher

Elsevier BV

Subject

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

Reference14 articles.

1. Diagnosis and management of the limb girdle muscular dystrophies;Bushby;Pract Neurol,2009

2. The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands;van der Kooi;Brain,1996

3. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families;van der Kooi;Neurology,2007

4. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular dystrophy and miyoshi type muscular dystrophy;Schessl;Muscle Nerve,2012

5. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy;Hicks;Brain,2011

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

2. Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy;Genes;2023-06-24

3. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort;Brain;2023-03-13

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

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

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