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MON-122 Familial Clinical Heterogeneity Manifested by the Presence of Either Diabetes or Deafness in a Pedigree of a Patient with Maternally Inherited Diabetes Mellitus and Deafness and Mitochondrial DNA M.3243a>G Mutation

Introduction: Mitochondrial DNA mutation is a rare cause for diabetes mellitus (DM) and deafness that is often misdiagnosed as type 1 or type 2 DM. Unique management issues, associated comorbidities and fertility plans require proper diagnosis. Proband: a 25 year-old female presented with a fasting...

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Detalles Bibliográficos
Autores principales: Sack, Jessica, Ish-Shalom, Maya, Yacobi Bach, Michal, Stern, Naftali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550939/
http://dx.doi.org/10.1210/js.2019-MON-122