The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in <i>MT-ATP6</i> Mutations?
Pathogenic variants in the <i>MT-ATP6</i> are a well-known cause for maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes. Here, we present a 31- year old female with insulin-dependent diabetes mellitus, recurrent lactic acidosis and ketoacidos...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-06-01
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| Series: | Diseases |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2079-9721/8/2/19 |