Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

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 p...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575512/
https://www.ncbi.nlm.nih.gov/pubmed/28544275
http://dx.doi.org/10.1002/humu.23262

Ejemplares similares

Ejemplares similares