Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.

doi:10.1093/hmg/ddw220

Article

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.

Human molecular genetics - 1 Sept 2016

Gregianin Elisa, Pallafacchina Giorgia, Zanin Sofia, Crippa Valeria, Rusmini Paola, Poletti Angelo, Fang Mingyan, Li Zhouxuan, Diano Laura, Petrucci Antonio, Lispi Ludovico, Cavallaro Tiziana, Fabrizi Gian M, Muglia Maria, Boaretto Francesca, Vettori Andrea, Rizzuto Rosario, Mostacciuolo Maria L, Vazza Giovanni

Abstract excerpt

Distal hereditary motor neuropathies (dHMNs) are clinically and genetically heterogeneous neurological conditions characterized by degeneration of the lower motor neurons. So far, 18 dHMN genes have been identified, however, about 80% of dHMN cases remain without a molecular diagnosis. By a combination of autozygosity mapping, identity-by-descent segment detection and whole-exome sequencing approaches, we...

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Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.

Abstract excerpt

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