Expanding the Clinical Spectrum of NUBPL Associated Disorders: Previously Unidentified NUBPL Variants Uncovered by Genome Sequencing in Sibling Pair (P10-6.009)
We present a case of two siblings exhibiting variable clinical phenotypes despite sharing the same variants in the NUBPLgene. This case aims to explore the genotype-phenotype correlations and the implications of genetic testing in diagnosing mitochondrial disorders.
Authors
- Sophia Ceulemans (ORCID: https://orcid.org/0000-0003-0216-4538)
- Lucia Guidugli
- Shadi Shams (ORCID: https://orcid.org/0000-0003-4334-2820)
- Jennifer Yang
- Diana Alzate
- Staffan Olsson
Institutions
- University of California San Diego (US)
- Neurology, Inc (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000208735
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00