A Novel Splice Site Variant in <i>COL6A1</i> Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family
We identified a novel COL6A1 variant in a consanguineous family, highlighting the need for further studies in larger African cohorts to enhance genetic epidemiology and prepare for future therapeutic research.
Authors
- Abdoulaye Yalcouyé (ORCID: https://orcid.org/0000-0003-4279-7380)
- Fousseyni Kané (ORCID: https://orcid.org/0000-0002-9967-7956)
- Sidi Touré
- Guida Landouré (ORCID: https://orcid.org/0000-0002-5921-7832)
- Seydou Nakanabo Diallo (ORCID: https://orcid.org/0000-0002-1253-4726)
- I.S. Pamanta
- Alassane Baneye Maīga (ORCID: https://orcid.org/0000-0002-7296-7785)
- Lassana Cissé (ORCID: https://orcid.org/0000-0001-6574-0956)
- Idrissa Ahmadou Cissé
- Kenneth H. Fischbeck (ORCID: https://orcid.org/0000-0002-8316-6895)
- Hamidou Oumar Bâ
- Salia Bamba (ORCID: https://orcid.org/0000-0002-1680-5183)
- Salimata Diallo
- Salimata Diarra (ORCID: https://orcid.org/0000-0003-2160-9942)
- Seybou Hassane Diallo
- Cheick O. Guinto
Institutions
- National Institutes of Health (US)
- Johns Hopkins University (US)
- Yale University (US)
- University of Bamako (ML)
- National Institute of Neurological Disorders and Stroke (US)
- Université des Sciences, des Techniques et des Technologies de Bamako (ML)
- Mali-Folkecenter (ML)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-11-01
- DOI
- https://doi.org/10.1002/mgg3.70032
- Citations
- 2
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.77
Funders
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke
- Common Fund