Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia (CROSBI ID 214715)
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Zimon, Magdalena ; Baets, Jonathan ; Almeida-Souza, Leonardo ; De Vriendt, Els ; Nikodinović, Jelena ; Parman, Yesim ; Battaloglu, Esra ; Matur, Zeliha ; Guergueltcheva, Velina ; Tournev, Ivailo ; Auer-Grumbach, Michaela ; De Rijk, Peter ; Petersen, Britt-Sabina ; Muller, Thomas ; Fransen, Erik ; Van Damme, Philip ; Loscher, N. Wolfgang ; Barišić, Nina ; Mitrović, Zoran ; Previtali, C. Stefano ; Topaloglu, Haluk ; Bernert, Gunther ; Beleza-Meireles, Ana ; Todorović, Slobodanka ; Savić-Pavičević, Dušanka ; Ishpekova, Boryana ; Lechner, Silvia ; Peeters, Kristien ; Ooms, Tinne ; Hahn, F. Angelika ; Zuchner, Stephen ; Timmerman, Vincent ; Van Dijck, Patrick ; Milić Rašić, Vedrana ; Janecke, R. Andreas ; De Jonghe, Peter ; Jordanova, Albena
engleski
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
generated lysyl-adenylate; histidine; supports; mice
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