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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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Xehetasun bibliografikoak
Argitaratua izan da:Cold Spring Harb Mol Case Stud
Egile Nagusiak: Madrid, Ricardo, Guariglia, Sara R., Haworth, Andrea, Korosh, William, Gavin, Maureen, Lyon, Gholson J.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Cold Spring Harbor Laboratory Press 2020
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7304361/
https://ncbi.nlm.nih.gov/pubmed/32532879
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005108
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