An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant-Reference-Cited by-同舟云学术

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An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

Published:2020-12 Issue: Volume:21 Page:100268
ISSN:2405-6502
Container-title:eNeurologicalSci
language:en
Short-container-title:eNeurologicalSci

Author:

Ohara Masahiro,Saito Yoshihiko,Watanabe Mutsufusa,Mizutani Saneyuki,Kobayashi Masaki,Iida Aritoshi,Nishino Ichizo,Fujigasaki Hiroto

Funder

National Center of Neurology and Psychiatry

Publisher

Elsevier BV

Subject

Neurology

Reference10 articles.

1. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy;Wallgren-Pettersson;Neuromuscul Disord,1999

2. Nemaline myopathies: a current view;Sewry;J Muscle Res Cell Motil,2019

3. Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders;Nishikawa;J Med Genet,2017

4. A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene;Tsunoda;J Neurol Sci,2017

5. Two cases of nemaline myopathy presenting with hypertrophy of distal limbs with prominent asymmetry;Mizuno;Rinsho Shinkeigaku,2017

Cited by 2 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. EGR1 Is Implicated in Right Ventricular Cardiac Remodeling Associated with Pulmonary Hypertension;Biology;2022-04-28

2. Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure;Internal Medicine;2022

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