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Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports

Case histories of two unrelated patients suffering from sensory ataxic neuropathy, dysarthria/ dysphagia and external ophthalmoplegia (SANDO) are reported. Both patients showed compound heterozygosity for POLG1 gene mutations, and presented with symptom of the clinical characteristics of SANDO. A pa...

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Detalles Bibliográficos
Autores principales: Gáti, István, Danielsson, Olof, Jonasson, Jon, Landtblom, Anne-Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298093/
https://www.ncbi.nlm.nih.gov/pubmed/22616202