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Antonella Cecconi
Publications - 1
Citations - 37
Antonella Cecconi is an academic researcher. The author has contributed to research in topics: Compound heterozygosity & Myopathy. The author has an hindex of 1, co-authored 1 publications receiving 29 citations.
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Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
Alessia Nasca,C. Scotton,Irina Zaharieva,Marcella Neri,Rita Selvatici,Olafur Thor Magnusson,Anikó Gál,David Weaver,Rachele Rossi,Annarita Armaroli,Marika Pane,Rahul Phadke,Anna Sarkozy,Francesco Muntoni,Imelda Hughes,Antonella Cecconi,György Hajnóczky,Alice Donati,Eugenio Mercuri,Massimo Zeviani,Alessandra Ferlini,Daniele Ghezzi +21 more
TL;DR: The first families carrying recessive variants in the MSTO1 gene were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia, confirming the deleterious effect of the identified variants and the role of M STO1 in modulating mitochondrial dynamics.