Autosomal dominant eccentric core disease caused by a heterozygous mutation in theMYH7gene-Reference-Cited by-同舟云学术

Autosomal dominant eccentric core disease caused by a heterozygous mutation in theMYH7gene

Published:2014-05-14 Issue:10 Volume:85 Page:1149-1152
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Romero Norma B,Xie Ting,Malfatti Edoardo,Schaeffer Ursula,Böhm Johann,Wu Bin,Xu Fengping,Boucebci Samy,Mathis Stéphane,Neau Jean-Philippe,Monnier Nicole,Fardeau Michel,Laporte Jocelyn

Publisher

BMJ

Subject

Psychiatry and Mental health,Clinical Neurology,Surgery

Reference13 articles.

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2. Congenital myopathies;Fardeau,1982

3. Myosinopathies: pathology and mechanisms;Tajsharghi;Acta Neuropathol,2013

4. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy;Pegoraro;Neuromusc Disord,2007

5. New phenotype and pathology features in MYH7-related distal myopathy;Tasca;Neuromusc Disord,2012

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1. MYH7 in cardiomyopathy and skeletal muscle myopathy;Molecular and Cellular Biochemistry;2023-04-20

2. Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies;Journal of General Physiology;2022-08-18

3. Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy;Journal of Neonatal-Perinatal Medicine;2022-01-27

4. The 2022 version of the gene table of neuromuscular disorders (nuclear genome);Neuromuscular Disorders;2021-12

5. Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations;Orphanet Journal of Rare Diseases;2020-12