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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Scientific Literature, Inc.
2020
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| Materias: | |
| 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 |