A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy

BACKGROUND: Mutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH). Clinical features of MTDPS6 is infantile onset of progressive liver failure with seldom development of progressive neurologic involvement....

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Detalles Bibliográficos
Autores principales: Choi, Yu-Ri, Hong, Young Bin, Jung, Sung-Chul, Lee, Ja Hyun, Kim, Ye Jin, Park, Hyung Jun, Lee, Jinho, Koo, Heasoo, Lee, Ji-Su, Jwa, Dong Hwan, Jung, Namhee, Woo, So-Youn, Kim, Sang-Beom, Chung, Ki Wha, Choi, Byung-Ok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4595119/
https://www.ncbi.nlm.nih.gov/pubmed/26437932
http://dx.doi.org/10.1186/s12883-015-0430-1

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