Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
Abstract Introduction COXPD23 is a rare mitochondrial disease caused by biallelic pathogenic variants in GTPBP3. We report on two siblings with a mild phenotype. Case reports The young boy presented with global developmental delay, ataxic gait and upper limbs tremor, and the older sister with absenc...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-03-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.51980 |