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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2015
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| Materias: | |
| 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 |