Journal article
External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation
Journal of the neurological sciences, v 197(1)
2002
PMID: 11997068
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Background: Chronic progressive external ophthalmoplegia (CPEO) may be related to primary nuclear DNA or mitochondrial (mt)DNA mutations. The A3243G mtDNA point mutation most frequently causes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, but also has been associated with other phenotypes including CPEO, migraine, seizure, diabetes, and sensorineural hearing loss.
Case description: We report a 38-year-old white man with seizures and progressive difficulties of infantile origin including CPEO, sensorineural hearing loss, cataracts, migraines, multiple endocrinopathy, myopathy, and cardiomyopathy. Moderate hearing loss in association with CPEO, diabetes mellitus, or migraines were noted in the proband's maternal grandmother, great aunt, mother, and three sisters, suggesting either an autosomal dominant or maternal inheritance. Detailed histological and biochemical analysis of the proband's biopsied muscle specimen revealed severe abnormalities compatible with a mitochondrial disease. MtDNA analysis excluded large-scale deletions, but revealed a heteroplasmic A to G transition at nt3243 in 56.4% and 27.4% of molecules in muscle and white blood cells, respectively.
Conclusion: We discuss possible causes of this intrafamilial heterogeneity of phenotypes associated with the A3243G mtDNA mutation.
Metrics
Details
- Title
- External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation
- Creators
- Sun Hansrote - Hahnemann University HospitalSidney Croul - Hahnemann University HospitalMary Selak - University of PennsylvaniaBernadette Kalman - Hahnemann University HospitalRobert J. Schwartzman - Hahnemann University Hospital
- Publication Details
- Journal of the neurological sciences, v 197(1)
- Publisher
- Elsevier
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Neurology
- Web of Science ID
- WOS:000175803000009
- Scopus ID
- 2-s2.0-0037094054
- Other Identifier
- 991019167949504721
UN Sustainable Development Goals (SDGs)
This publication has contributed to the advancement of the following goals:
InCites Highlights
Data related to this publication, from InCites Benchmarking & Analytics tool:
- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Clinical Neurology
- Neurosciences