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Early-onset cerebellar ataxia in a patient with CMT2A2

A 9-yr 8-mo-old right-handed female presented with a history of gait difficulties, which first became apparent at age 9 mo of age, along with slurred speech and hand tremors while holding a tray. Her past medical history was significant for global developmental delay, and she was attending fourth gr...

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Detalles Bibliográficos
Autores principales: Madrid, Ricardo, Guariglia, Sara R., Haworth, Andrea, Korosh, William, Gavin, Maureen, Lyon, Gholson J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304361/
https://www.ncbi.nlm.nih.gov/pubmed/32532879
http://dx.doi.org/10.1101/mcs.a005108