Abstract
The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). The mutation was not identified in parents' blood, hair follicles, buccal mucosa, or urinary epithelium, indicating germ line mosaicism. One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amino Acid Substitution
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Ataxia / genetics*
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Blepharoptosis / genetics
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Chromosomes, Human, Pair 10 / genetics*
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Codon / genetics
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DNA Helicases
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DNA Primase / genetics*
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DNA Primase / physiology
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DNA, Mitochondrial / genetics
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Dementia / genetics
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Dysarthria / genetics*
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Electron Transport Complex IV / analysis
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Female
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Gait Disorders, Neurologic / genetics
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Genetic Heterogeneity*
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Germ-Line Mutation*
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Heterozygote
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Humans
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Male
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Middle Aged
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Mitochondria, Muscle / enzymology
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Mitochondrial Proteins
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Mosaicism*
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Ophthalmoplegia, Chronic Progressive External / genetics*
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Pedigree
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Sequence Deletion
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Succinate Dehydrogenase / analysis
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Succinate Dehydrogenase / deficiency
Substances
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Codon
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DNA, Mitochondrial
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Mitochondrial Proteins
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Succinate Dehydrogenase
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Electron Transport Complex IV
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DNA Primase
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DNA Helicases
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TWNK protein, human