A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder of the peripheral nervous system. So far, mutations in hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB) gene exhibit three distinctive phenotypes: severe n...

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Détails bibliographiques
Auteurs principaux: Hong, Young Bin, Lee, Ja Hyun, Park, Jin-Mo, Choi, Yu-Ri, Hyun, Young Se, Yoon, Bo Ram, Yoo, Jeong Hyun, Koo, Heasoo, Jung, Sung-Chul, Chung, Ki Wha, Choi, Byung-Ok
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4029087/
https://ncbi.nlm.nih.gov/pubmed/24314034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-125
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