Article
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Human mutation - 1 Aug 2017
Nasca Alessia, Scotton Chiara, Zaharieva Irina, Neri Marcella, Selvatici Rita, Magnusson Olafur Thor, Gal Aniko, Weaver David, Rossi Rachele, Armaroli Annarita, Pane Marika, Phadke Rahul, Sarkozy Anna, Muntoni Francesco, Hughes Imelda, Cecconi Antonella, Hajnóczky György, Donati Alice, Mercuri Eugenio, Zeviani Massimo, Ferlini Alessandra, Ghezzi Daniele
Abstract excerpt
We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of...
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