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A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings

A family with pseudodominant Friedreich's ataxia is described showing marked variation of phenotype between affected siblings. The mother of this family (III-3) developed a spastic ataxic tetraplegia with neuropathy at 34 years of age; her husband, who was unrelated, was clinically normal. Of t...

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Detalhes bibliográficos
Main Authors: Webb, S., Doudney, K., Pook, M., Chamberlain, S., Hutchinson, M.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736476/
https://ncbi.nlm.nih.gov/pubmed/10406994
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