Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

Distal hereditary motor neuropathies (dHMNs) are a heterogenous group of genetic disorders with length-dependent degeneration of motor axons. Obtaining a genetic diagnosis in patients with dHMN remains challenging. We performed exome sequencing in a diagnostic setting in 12 patients with a clinical...

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Autores principales: Zhao, Hui, Race, Valérie, Matthijs, Gert, De Jonghe, Peter, Robberecht, Wim, Lambrechts, Diether, Van Damme, Philip
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2014
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4023208/
https://ncbi.nlm.nih.gov/pubmed/24105373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.231
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