De Toni-Debré-Fanconi syndrome in a patient with Kearns-Sayre syndrome: a case report

INTRODUCTION: Kearns-Sayre syndrome is a mitochondrial myopathy that demonstrates chronic progressive ophthalmoplegia with onset before the age of 20 and pigmentary degeneration of the retina. CASE PRESENTATION: We report the case of an 18-year-old Romanian man with short stature, external ophthalmo...

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Detalles Bibliográficos
Autores principales: Mihai, Cristina Maria, Catrinoiu, Doina, Toringhibel, Marius, Stoicescu, Ramona Mihaela, Hancu, Anca
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2783042/
https://www.ncbi.nlm.nih.gov/pubmed/19946579
http://dx.doi.org/10.1186/1752-1947-3-101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2783042/
https://www.ncbi.nlm.nih.gov/pubmed/19946579
http://dx.doi.org/10.1186/1752-1947-3-101

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