Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

BACKGROUND: Mutations in the Pleckstrin homology domain-containing, family G member 5 (PLEKHG5) gene has been reported in a family harboring an autosomal recessive lower motor neuron disease (LMND). However, the PLEKHG5 mutation has not been described to cause Charcot-Marie-Tooth disease (CMT). METH...

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Autores principales: Kim, Hyeon Jin, Hong, Young Bin, Park, Jin-Mo, Choi, Yu-Ri, Kim, Ye Jin, Yoon, Bo Ram, Koo, Heasoo, Yoo, Jeong Hyun, Kim, Sang Beom, Park, Minhwa, Chung, Ki Wha, Choi, Byung-Ok
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3728151/
https://ncbi.nlm.nih.gov/pubmed/23844677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-104
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