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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: smit rb. 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.
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