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Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons
OBJECTIVE: To identify the genetic cause of axonal hereditary motor and sensory neuropathy (HMSN2) with infrequent giant axons. METHODS: We studied 11 members of a previously described HMSN2 family with infrequent giant axons and variable cardiomyopathy. Whole-exome sequencing (WES) was performed on...
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| Main Authors: | , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3959756/ https://ncbi.nlm.nih.gov/pubmed/24500646 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000206 |
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