Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation

We report the case of a mother and two children who shared a mitochondrial DNA A3243G mutation. The mother had diabetes mellitus, neurogenic bladder, bradykinesia, dystonia, and slowly progressive cerebellar ataxia. Her two daughters were diagnosed with mitochondrial myopathy, encephalopathy, lactic...

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Detalles Bibliográficos
Autores principales: Suzuki, Junichiro, Iwata, Mai, Moriyoshi, Hideyuki, Nishida, Suguru, Yasuda, Takeshi, Ito, Yasuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478573/
https://www.ncbi.nlm.nih.gov/pubmed/28458318
http://dx.doi.org/10.2169/internalmedicine.56.7753

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478573/
https://www.ncbi.nlm.nih.gov/pubmed/28458318
http://dx.doi.org/10.2169/internalmedicine.56.7753

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