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Prominent Lower‐Limb Involvement in a Family with Myoclonus‐Dystonia

We report on a large family with myoclonus‐dystonia resulting from an epsilon‐sarcoglycan mutation, with prominent early and late lower‐limb involvement. The proband's condition has evolved to include marked lower‐limb dystonia and dystonic gait impairment in the fourth decade. Other family mem...

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Detalhes bibliográficos
Publicado no:Mov Disord Clin Pract
Main Authors: Kobylecki, Christopher, Damodaran, Dinesh, Kerr, Bronwyn, Newton, Richard W., Silverdale, Monty A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6183303/
https://ncbi.nlm.nih.gov/pubmed/30363924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12022
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