Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

A 24-year-old Japanese man exhibited slowly progressive gait disturbance from childhood to young adulthood. Physical and physiological examinations showed the involvement of both upper and lower motor neurons, fulfilling the diagnostic criteria for amyotrophic lateral sclerosis (ALS). Mild cognitive...

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Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: Yamaura, Genpei, Higashiyama, Yuichi, Kusama, Kaori, Kunii, Misako, Tanaka, Kenichi, Koyano, Shigeru, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Iwahashi, Yukiko, Joki, Hideto, Matsumoto, Naomichi, Doi, Hiroshi, Tanaka, Fumiaki
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6794182/
https://ncbi.nlm.nih.gov/pubmed/31178479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.2126-18
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