Myopathy, Mitochondrial Anomalies, and Ataxia
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References
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, Hajnoczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Hum Mutat. 2017 Aug;38(8):970-977.
PubMedID: 28544275
Gal A, Balicza P, Weaver D, Naghdi S, Joseph SK, Varnai P, Gyuris T, Horvath A, Nagy L, Seifert EL, Molnar MJ, Hajnoczky G. MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. EMBO Mol Med. 2017 Jul;9(7):967-984.
PubMedID: 28554942