Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts-Reference-Cited by-同舟云学术

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Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts

Published:2018-02-05 Issue:6 Volume:57 Page:1026-1030
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Witting Nanna¹^ORCID,Krag Thomas¹,Werlauff Ulla²,Duno Morten³,Oestergaard Sofie Thuroe¹,Dahlqvist Julia Rebecka¹,Vissing John¹

Affiliation:

1. Copenhagen Neuromuscular Center, Department of Neurology; 2081, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen Denmark

2. The Danish National Rehabilitation Centre for Neuromuscular Diseases; Aarhus Denmark

3. Department of Clinical Genetics, Rigshospitalet; University of Copenhagen; Denmark

Funder

Danish Council for Independent Research, Medical Sciences

NOVO foundation

Lundbeck Foundation

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference11 articles.

1. Diagnosis and etiology of congenital muscular dystrophy: we are halfway there;O'Grady;Ann Neurol,2016

2. Diagnosis and etiology of congenital muscular dystrophy;Peat;Neurology,2008

3. A novel COL12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects;Punetha;Muscle Nerve,2017

4. Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy;Hicks;Hum Mol Genet,2014

5. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice;Zou;Hum Mol Genet,2014

Cited by 11 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. <i>COL12A1</i> Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy;Molecular Syndromology;2024

2. Collagen XII-Related Myopathy;Neurology India;2023-11

3. Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy;Neuromuscular Disorders;2023-07

4. Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers‐Danlos syndrome;American Journal of Medical Genetics Part A;2023-06-23

5. Collagen XII mediated cellular and extracellular mechanisms in development, regeneration, and disease;Frontiers in Cell and Developmental Biology;2023-03-02

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