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6. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Nasca A; Scotton C; Zaharieva I; Neri M; Selvatici R; Magnusson OT; Gal A; Weaver D; Rossi R; Armaroli A; Pane M; Phadke R; Sarkozy A; Muntoni F; Hughes I; Cecconi A; Hajnóczky G; Donati A; Mercuri E; Zeviani M; Ferlini A; Ghezzi D Hum Mutat; 2017 Aug; 38(8):970-977. PubMed ID: 28544275 [TBL] [Abstract][Full Text] [Related]
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9. MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. Gal A; Balicza P; Weaver D; Naghdi S; Joseph SK; Várnai P; Gyuris T; Horváth A; Nagy L; Seifert EL; Molnar MJ; Hajnóczky G EMBO Mol Med; 2017 Jul; 9(7):967-984. PubMed ID: 28554942 [TBL] [Abstract][Full Text] [Related]
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11. [Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene]. Tian Y; Shi Z; Hou C; Li W; Zhu H; Li X; Chen W Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):417-420. PubMed ID: 35446979 [TBL] [Abstract][Full Text] [Related]
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17. Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy. Li JK; Li W; Gao FJ; Qu SF; Hu FY; Zhang SH; Li LL; Wang ZW; Qiu Y; Wang LS; Huang J; Wu JH; Chen F Transl Vis Sci Technol; 2020 Jul; 9(8):11. PubMed ID: 32855858 [TBL] [Abstract][Full Text] [Related]
18. Hereditary optic neuropathies share a common mitochondrial coupling defect. Chevrollier A; Guillet V; Loiseau D; Gueguen N; de Crescenzo MA; Verny C; Ferre M; Dollfus H; Odent S; Milea D; Goizet C; Amati-Bonneau P; Procaccio V; Bonneau D; Reynier P Ann Neurol; 2008 Jun; 63(6):794-8. PubMed ID: 18496845 [TBL] [Abstract][Full Text] [Related]
19. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Ferré M; Bonneau D; Milea D; Chevrollier A; Verny C; Dollfus H; Ayuso C; Defoort S; Vignal C; Zanlonghi X; Charlin JF; Kaplan J; Odent S; Hamel CP; Procaccio V; Reynier P; Amati-Bonneau P Hum Mutat; 2009 Jul; 30(7):E692-705. PubMed ID: 19319978 [TBL] [Abstract][Full Text] [Related]