Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G

Case series Patients:— Final Diagnosis: Metabolic acidosis Symptoms: Deafness Medication: — Clinical Procedure: — Specialty: Neurology OBJECTIVE: Rare disease BACKGROUND: The pathogenic mitochondrial DNA variant m.3243A>G is associated with a wide range of clinical features, making disease course...

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Detalles Bibliográficos
Autores principales: Finsterer, Josef, Laccone, Franco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7704058/
https://www.ncbi.nlm.nih.gov/pubmed/33237887
http://dx.doi.org/10.12659/AJCR.927938

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7704058/
https://www.ncbi.nlm.nih.gov/pubmed/33237887
http://dx.doi.org/10.12659/AJCR.927938

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