Homozygosity Mapping of Portuguese and Japanese Forms of Ataxia-Oculomotor Apraxia to 9p13, and Evidence for Genetic Heterogeneity

Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late peripheral neuropathy, slow progression, severe motor handicap, and absence of both telangiectasias and immunodeficiency. We studied 13 Portuguese families with AOA and found...

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Autori principali: Moreira, Maria do Céu, Barbot, Clara, Tachi, Nobutada, Kozuka, Naoki, Mendonça, Pedro, Barros, José, Coutinho, Paula, Sequeiros, Jorge, Koenig, Michel
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2001
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235299/
https://ncbi.nlm.nih.gov/pubmed/11170899
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