Friedreich ataxia in Norway – an epidemiological, molecular and clinical study

BACKGROUND: Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and skeletal deformities. Friedreich ataxia is the most common hereditary ataxia, w...

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Detalles Bibliográficos
Autores principales: Wedding, Iselin Marie, Kroken, Mette, Henriksen, Sandra Pilar, Selmer, Kaja Kristine, Fiskerstrand, Torunn, Knappskog, Per Morten, Berge, Tone, Tallaksen, Chantal ME
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559212/
https://www.ncbi.nlm.nih.gov/pubmed/26338206
http://dx.doi.org/10.1186/s13023-015-0328-4

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