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

Autor: Maiga, Alassane Baneye¹ (AUTHOR), Pamanta, Ibrahim² (AUTHOR), Bamba, Salia^1,3 (AUTHOR), Cissé, Lassana⁴ (AUTHOR), Diarra, Salimata^3,5 (AUTHOR), Touré, Sidi² (AUTHOR), Yalcouyé, Abdoulaye^1,6 (AUTHOR), Diallo, Seydou² (AUTHOR), Diallo, Salimata⁷ (AUTHOR), Kané, Fousseyni¹ (AUTHOR), Diallo, Seybou Hassane⁷ (AUTHOR), Ba, Hamidou Oumar⁸ (AUTHOR), Guinto, Cheick Oumar^1,9 (AUTHOR), Fischbeck, Kenneth⁵ (AUTHOR), Landoure, Guida^1,9 (AUTHOR) guida@icermali.org, Cissé, Idrissa Ahmadou^1,2 (AUTHOR)

Publikováno v: Molecular Genetics & Genomic Medicine. Nov2024, Vol. 12 Issue 11, p1-6. 6p.

Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.

Autor: Maksiutenko, Evgeniia M.¹ (AUTHOR), Merkureva, Valeriia^1,2 (AUTHOR), Barbitoff, Yury A.^1,3 (AUTHOR) barbitoff@bk.ru, Tsay, Victoria V.^1,2,4 (AUTHOR), Aseev, Mikhail V.^1,2 (AUTHOR), Glotov, Andrey S.^1,3 (AUTHOR), Glotov, Oleg S.^1,4 (AUTHOR) olglotov@mail.ru

Publikováno v: Physiological Reports. Apr2024, Vol. 12 Issue 8, p1-8. 8p.

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Collagen VI related muscle disorders.

Autor: Lampe, A. K., Bushby, K. M. D.

Publikováno v: Journal of Medical Genetics; Sep2005, Vol. 42 Issue 9, p673-685, 13p, 1 Color Photograph, 1 Black and White Photograph, 2 Diagrams, 2 Charts

Investigation of mitochondrial function in hereditary spastic paraparesis.

Autor: Mcdermott, C. J., Taylor, R. W., Hayes, C., Johnson, M., Bushby, K. M. D., Turnbull, D. M., Shaw, P. J.

Publikováno v: NeuroReport; 3/3/2003, Vol. 14 Issue 3, p485-488, 4p