Cargando…
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...
Autores principales: | Mihai, Cristina Maria, Catrinoiu, Doina, Toringhibel, Marius, Stoicescu, Ramona Mihaela, Hancu, Anca |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2009
|
Materias: | |
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 |
Ejemplares similares
-
Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series
por: Mihai, Cristina Maria, et al.
Publicado: (2009) -
Retinoschisis associated with Kearns-Sayre syndrome
por: Chertkof, Julia, et al.
Publicado: (2020) -
Choroid plexus failure in the Kearns-Sayre syndrome
por: Spector, Reynold, et al.
Publicado: (2010) -
Kearns–Sayre syndrome: An unusual ophthalmic presentation
por: Ahmad, Syed S., et al.
Publicado: (2012) -
Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation
por: Finsterer, Josef, et al.
Publicado: (2016)