A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy

Progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. In a single family, three affected siblings exhibited Friedreich's-ataxia-like phenotypes before 2 years of age. They had progressive cerebellar atrophy, intellectual disability, and scoliosis. A...

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Detalles Bibliográficos
Autores principales: Kim, Young Ok, Yun, Misun, Jeong, Jae-Ho, Choi, Seong Min, Kim, Seul Kee, Yoon, Woong, Park, Chungoo, Hong, Yeongjin, Woo, Young Jong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639074/
https://www.ncbi.nlm.nih.gov/pubmed/28960046
http://dx.doi.org/10.3346/jkms.2017.32.11.1885

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