Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort-Reference-Cited by-同舟云学术

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort

Published:2018-06 Issue:6 Volume:22 Page:374-383
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Carvalho Alzira Alves de Siqueira¹²,Lacene Emmanuele²,Brochier Guy²,Labasse Clémance²,Madelaine Angeline²,Silva Vinicius Gomes da¹,Corazzini Roseli¹,Papadopoulos Konstantinos³,Behin Anthony³,Laforêt Pascal³,Stojkovic Tania³,Eymard Bruno³,Fardeau Michel²,Romero Norma²

Affiliation:

1. Laboratório de Doenças Neuromusculares da Faculdade de Medicina do ABC, Departamento de Neurociências, Santo André, Brazil.

2. Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

3. Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Institut de Myologie, Paris, France.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2018.0004

Reference34 articles.

1. Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages

2. Myofibrillar myopathies: State of the art, present and future challenges

3. Subsarcolemmal Vermiform Deposits in Skeletal Muscle, Associated with Familial Cardiomyopathy: Report of Two Cases of a New Entity

4. Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies;Neurology;2024-08-27

2. Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model;Human Molecular Genetics;2024-04-15

3. Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies;Acta Neuropathologica Communications;2023-01-26

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

5. Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood;Orphanet Journal of Rare Diseases;2022-09-14