Machado–Joseph disease in a Nigerian family: mutational origin and review of the literature

Machado-Joseph disease (MJD) has been described in Africans, but no cases have been reported from Nigeria. Current MJD global distribution results from both the ancestral populations-of-origin and the founder effects of mutations, some as a consequence of the Portuguese sea travels in the 15th to 16...

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Veröffentlicht in:	European journal of human genetics : EJHG Jg. 23; H. 2; S. 271 - 273
Hauptverfasser:	Ogun, Shamsideen Abayomi, Martins, Sandra, Adebayo, Philip B, Dawodu, Clara O, Sequeiros, Jorge, Finkel, Michael F
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England Nature Publishing Group 01.02.2015
Schlagworte:	Adult African Continental Ancestry Group Ataxia Ataxin-3 Demyelination Dysphagia EMG Epidemiology Female Fibrillation Founder effect Gait Genetics Haplotypes Human Migration Humans Immunology Literature reviews Machado-Joseph disease Machado-Joseph Disease - diagnosis Machado-Joseph Disease - epidemiology Machado-Joseph Disease - ethnology Machado-Joseph Disease - genetics Male Muscles Mutation Nerve conduction Nerve Tissue Proteins - genetics Neurology Nigeria Nuclear Proteins - genetics Nystagmus Pedigree Portugal Repressor Proteins - genetics Short Report Studies Asia United States > US China Japan Nigeria Azores Portugal
ISSN:	1018-4813, 1476-5438, 1476-5438
Online-Zugang:	Volltext
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