A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene-Reference-Cited by-同舟云学术

A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene

Published:2017-02 Issue: Volume:373 Page:254-257
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Tsunoda Keiichiro,Yamashita Toru,Motokura Emi,Takahashi Yoshiaki,Sato Kota,Takemoto Mami,Hishikawa Nozomi,Ohta Yasuyuki,Nishikawa Atsuko,Nishino Ichizo,Abe Koji

Funder

Ministry of Health, Labour and Welfare

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference18 articles.

1. Nemaline myopathies;Wallgren-Pettersson;Semin. Pediatr. Neurol.,2011

2. Nemaline myopathy. A new congenital myopathy;Shy;Brain,1963

3. Clinical and pathological features of patients with nemaline myopathy;Yin;Mol. Med. Rep.,2014

4. Sporadic late-onset nemaline myopathy in a patient with systemic lupus erythematosus;Dimitri;J. Neurol.,2013

5. Sporadic late onset nemaline myopathy and immunoglobulin deposition disease;Doppler;Muscle Nerve,2013

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

2. An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant;eNeurologicalSci;2020-12

3. Update on Congenital Myopathies in Adulthood;International Journal of Molecular Sciences;2020-05-24

4. Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy;Clinical Genetics;2020-04-06

5. A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review;Acta Neurologica Belgica;2019-11-06