Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy

OBJECTIVE: To identify the underlying genetic cause of a congenital neuropathy in a 5-year-old boy as part of a cohort of 32 patients from 23 families with genetically unresolved neuropathies. METHODS: We used autozygosity mapping coupled with next-generation sequencing to investigate a consanguineo...

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Detalles Bibliográficos
Autores principales: Schottmann, Gudrun, Seelow, Dominik, Seifert, Franziska, Morales-Gonzalez, Susanne, Gill, Esther, von Au, Katja, von Moers, Arpad, Stenzel, Werner, Schuelke, Markus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811389/
https://www.ncbi.nlm.nih.gov/pubmed/27066569
http://dx.doi.org/10.1212/NXG.0000000000000032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811389/
https://www.ncbi.nlm.nih.gov/pubmed/27066569
http://dx.doi.org/10.1212/NXG.0000000000000032

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