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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794182/
https://www.ncbi.nlm.nih.gov/pubmed/31178479
http://dx.doi.org/10.2169/internalmedicine.2126-18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794182/
https://www.ncbi.nlm.nih.gov/pubmed/31178479
http://dx.doi.org/10.2169/internalmedicine.2126-18

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