A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of the genotype–phenotype correlation-Reference-Cited by-同舟云学术

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A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of the genotype–phenotype correlation

Published:2017 Issue: Volume:3 Page:214-220
ISSN:1641-4640
Container-title:Folia Neuropathologica
language:
Short-container-title:fn

Author:

Koppolu Agnieszka A.,Madej-Pilarczyk Agnieszka,Rydzanicz Małgorzata,Kosińska Joanna,Gasperowicz Piotr,Dorszewska Jolanta,Kozubski Wojciech,Steinborn Barbara,Kochański Andrzej M.,Płoski Rafał

Publisher

Termedia Sp. z.o.o.

Subject

Neurology (clinical),Pathology and Forensic Medicine

Cited by 6 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. Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure;Physiological Reports;2024-04

2. Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review;Journal of Musculoskeletal Surgery and Research;2024-01-31

3. Causative variant profile of collagen VI-related dystrophy in Japan;Orphanet Journal of Rare Diseases;2021-06-24

4. Muscular Dystrophies and Allied Disorders III;Muscle Biopsy;2021

5. SLC4A4 compound heterozygous mutations in exon–intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner’s syndrome: a case report;BMC Medical Genetics;2018-06-18

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