A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family

ABSTRACT Background Congenital muscular dystrophies (CMDs) are diverse early‐onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI‐related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in th...

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Main Authors: Alassane Baneye Maiga, Ibrahim Pamanta, Salia Bamba, Lassana Cissé, Salimata Diarra, Sidi Touré, Abdoulaye Yalcouyé, Seydou Diallo, Salimata Diallo, Fousseyni Kané, Seybou Hassane Diallo, Hamidou Oumar Ba, Cheick Oumar Guinto, Kenneth Fischbeck, Guida Landoure, Idrissa Ahmadou Cissé, The H3Africa Consortium
Format: Article
Language:English
Published: Wiley 2024-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Africa
COL6A1
collagen VI‐related muscular dystrophies
Mali
splicing variant
Ullrich congenital muscular dystrophy
Online Access:https://doi.org/10.1002/mgg3.70032
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https://doi.org/10.1002/mgg3.70032

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