Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family-Reference-Cited by-同舟云学术

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Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family

Published:2021-03 Issue:3 Volume:22 Page:173-179
ISSN:1522-0443
Container-title:Journal of Clinical Neuromuscular Disease
language:en
Short-container-title:

Author:

Mihaylova Violeta,Chablais Fabian,Bremer Juliane,Guggenberger Roman,Rushing Elisabeth J.,Bethge Tobias,Spiegel Roland,Jung Hans-Heinrich

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Clinical Neurology,Neurology,General Medicine

Reference13 articles.

1. Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s);Yonekawa;J Neurol Neurosurg Psychiatry.,2015

2. Novel pathogenic variants and genes for myopathies identified by whole exome sequencing;Hunter;Mol Genetics Genomic Med.,2015

3. Early onset collagen VI myopathies: genetic and clinical correlations;Brinas;Ann Neurol.,2010

4. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients;Fichna;Hum Genomics.,2018

5. Congenital muscular dystrophies in the UK population: clinical and molecular spectrum of a large cohort diagnosed over a 12-year period;Sframeli;Neuromusc Dis.,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. Bioinformatics analysis of key candidate genes and pathways in Chinese patients with keratoconus;Experimental Eye Research;2023-06

2. Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies;Genes;2023-02-24

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