Loss-of-function mutations in the SIGMAR1...

Human Molecular Genetics 2016 / 07

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca 2+ signaling

Gregianin, Elisa, Pallafacchina, Giorgia, Zanin, Sofia, Crippa, Valeria, Rusmini, Paola, Poletti, Angelo, Fang, Mingyan, Li, Zhouxuan, Diano, Laura, Petrucci, Antonio, Lispi, Ludovico, Cavallaro, Tizi
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Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddw220
Date:
July, 2016
File:
PDF, 1.18 MB
english, 2016
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