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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium; Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Among authors: sabouny r. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.
Zhao T, Goedhart CM, Sam PN, Sabouny R, Lingrell S, Cornish AJ, Lamont RE, Bernier FP, Sinasac D, Parboosingh JS; Care4Rare Canada Consortium; Vance JE, Claypool SM, Innes AM, Shutt TE. Zhao T, et al. Among authors: sabouny r. Life Sci Alliance. 2019 Mar 11;2(2):e201900353. doi: 10.26508/lsa.201900353. Print 2019 Apr. Life Sci Alliance. 2019. PMID: 30858161 Free PMC article.
The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy.
Almutawa W, Smith C, Sabouny R, Smit RB, Zhao T, Wong R, Lee-Glover L, Desrochers-Goyette J, Ilamathi HS; Care4Rare Canada Consortium; Suchowersky O, Germain M, Mains PE, Parboosingh JS, Pfeffer G, Innes AM, Shutt TE. Almutawa W, et al. Among authors: sabouny r. EBioMedicine. 2019 Jul;45:379-392. doi: 10.1016/j.ebiom.2019.06.018. Epub 2019 Jun 21. EBioMedicine. 2019. PMID: 31231018 Free PMC article.
15 results