Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern-Reference-Cited by-同舟云学术

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Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

Published:2010-08 Issue:8 Volume:20 Page:517-523
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Deconinck N.,Dion E.,Yaou R. Ben,Ferreiro A.,Eymard B.,Briñas L.,Payan C.,Voit T.,Guicheney P.,Richard P.,Allamand V.,Bonne G.,Stojkovic T.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference40 articles.

1. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype;Scacheri;Neurology,2002

2. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23–24 November 2001, Naarden, The Netherlands;Pepe;Neuromuscul Disord,2002

3. Autosomal recessive myosclerosis myopathy is a collagen VI disorder;Merlini;Neurology,2008

4. Benign myopathy with autosomal dominant inheritance. a report of three pedigrees;Bethlem;Brain,1976

5. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures;Jobsis;Brain,1999

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2. Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center;Frontiers in Genetics;2023-12-13

3. Muscle Imaging in Muscular Dystrophies;Current Clinical Neurology;2023

4. A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing;International Journal of Molecular Sciences;2022-11-23

5. Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report;BMC Pediatrics;2022-10-17

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