NDLI: Novel Mitochondrial Transfer RNAPhe Gene Mutation Associated With Late-Onset Neuromuscular Disease

Content Provider	JAMA Network
Author	Deschauer, Marcus Swalwell, Helen Strauss, Maria Zierz, Stephan Taylor, Robert W.
Copyright Year	2006
Abstract	Background: An extensive range of molecular defects have been identified in the human mitochondrial genome (mitochondrial DNA); many are associated with well-characterized, progressive neurological syndromes, but a minority of patients have uncharacteristic phenotypes in which symptoms may be relatively mild. Objective: To describe a novel transfer RNAPhemutation of mitochondrial DNA in a late-onset case with a mild phenotype of mitochondrial disease. Design: Case report. Patient: A 66-year-old woman presented with a 4-year history of walking difficulties due to exercise intolerance and paresthesia in the feet. Clinical examination results were normal. Her deceased mother had similar walking difficulties, but her sister and 2 children were unaffected. Results: The demonstration of a marked histochemical defect in cytochromecoxidase activity on muscle biopsy prompted molecular investigation of mitochondrial DNA, revealing a novel maternally inherited mutation in the variable loop of the mitochondrial transfer RNAPhegene. This 622G> A transition was heteroplasmic and segregated with cytochromecoxidase deficiency in single fibers. Conclusion: This case serves to illustrate that primary defects of the mitochondrial genome should be considered even in older patients with late-onset, mild neuromuscular symptoms.
Ending Page	905
Starting Page	902
Page Count	4
File Format	PDF HTM / HTML
ISSN	00039942
DOI	10.1001/archneur.63.6.902
Issue Number	6
Journal	Archives of Neurology
Volume Number	63
Language	English
Publisher	American Medical Association
Publisher Date	2006-06-01
Access Restriction	Open
Subject Keyword	mutation mitochondria neuromuscular diseases transfer rna mitochondrial donation exercise intolerance rna cytochrome c oxidase mitochondrial diseases paresthesia biopsy of muscle physical examination cytochrome-c oxidase deficiency elderly mitochondrial dna genes genome phenotype foot
Content Type	Text
Resource Type	Article
Subject	1200/1201 Neurology (clinical)

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