Genetic heterogeneity in ten families with myoclonus-dystonia

Methods: The authors clinically and genetically characterised ten consecutive cases with myoclonus-dystonia; seven familial and three sporadic. Twenty nine M-D patients and 40 unaffected family members underwent a standardised clinical examination by a movement disorder specialist. Index cases were...

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Autors principals: Schule, B, Kock, N, Svetel, M, Dragasevic, N, Hedrich, K, de Carvalho, Aguia... P, Liu, L, Kabakci, K, Garrels, J, Meyer, E, Berisavac, I, Schwinger, E, Kramer, P, Ozelius, L, Klein, C, Kostic, V
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2004
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1739169/
https://ncbi.nlm.nih.gov/pubmed/15258227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2003.027177
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