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

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

Collagen VI-related myopathy is a group of disorders affecting skeletal muscles and connective tissue. The most common symptoms are muscle weakness and joint deformities which limit the movement and progress over time. Several forms of collagen VI-related myopathies have been described: Bethlem myop...

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Bibliographic Details
Main Authors: Agnieszka A. Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Gasperowicz, Jolanta Dorszewska, Wojciech Kozubski, Barbara Steinborn, Andrzej M. Kochański, Rafał Płoski
Format: Article
Language:English
Published: Termedia Publishing House 2017-09-01
Series:Folia Neuropathologica
Subjects:
<i>COL6A1
RNA splicing
Bethlem myopathy</i>
Online Access:https://www.termedia.pl/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-,20,30741,1,1.html

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https://www.termedia.pl/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-,20,30741,1,1.html

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