Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.

Hdl Handle:
http://hdl.handle.net/10147/207638
Title:
Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.
Authors:
O'Rourke, Killian; Buddles, Mark R; Farrell, Michael; Howley, Rachel; Sukuraman, Sunita; Connolly, Sean; Turnbull, Douglass M; Hutchinson, Michael; Taylor, Robert W
Affiliation:
Department of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland., killian.orourke@gmail.com
Citation:
Muscle Nerve. 2009 Oct;40(4):648-51.
Journal:
Muscle & nerve
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207638
DOI:
10.1002/mus.21342
PubMed ID:
19618438
Abstract:
We report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA(Lys) (MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de novo and was not maternally inherited. This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic.
Language:
eng
MeSH:
Adult; Body Height; Electromyography; Electron Transport Complex IV/genetics; Humans; Male; Mitochondrial Myopathies/*genetics/physiopathology; Muscle Fibers, Skeletal/pathology; Muscle, Skeletal/pathology; Neural Conduction; Osteoporosis/genetics/pathology; Peripheral Nervous System Diseases/genetics/pathology; Phenotype; Point Mutation/*genetics/physiology; RNA, Transfer, Lys/*genetics
ISSN:
0148-639X (Print); 0148-639X (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorO'Rourke, Killianen_GB
dc.contributor.authorBuddles, Mark Ren_GB
dc.contributor.authorFarrell, Michaelen_GB
dc.contributor.authorHowley, Rachelen_GB
dc.contributor.authorSukuraman, Sunitaen_GB
dc.contributor.authorConnolly, Seanen_GB
dc.contributor.authorTurnbull, Douglass Men_GB
dc.contributor.authorHutchinson, Michaelen_GB
dc.contributor.authorTaylor, Robert Wen_GB
dc.date.accessioned2012-02-01T10:33:36Z-
dc.date.available2012-02-01T10:33:36Z-
dc.date.issued2012-02-01T10:33:36Z-
dc.identifier.citationMuscle Nerve. 2009 Oct;40(4):648-51.en_GB
dc.identifier.issn0148-639X (Print)en_GB
dc.identifier.issn0148-639X (Linking)en_GB
dc.identifier.pmid19618438en_GB
dc.identifier.doi10.1002/mus.21342en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207638-
dc.description.abstractWe report the clinical, histochemical, and molecular genetic findings in a patient with progressive mitochondrial cytopathy due to the m.8313G>A point mutation in the mitochondrial tRNA(Lys) (MTTK) gene. The clinical features in this case are severe, including short stature, myopathy, peripheral neuropathy, and osteoporosis, while extensive analysis of maternal relatives indicate that the mutation has arisen de novo and was not maternally inherited. This report of a second case, together with single muscle fiber mutation analysis that shows clear segregation of mutation load with cytochrome c oxidase deficiency, confirms that the mutation is pathologic.en_GB
dc.language.isoengen_GB
dc.subject.meshAdulten_GB
dc.subject.meshBody Heighten_GB
dc.subject.meshElectromyographyen_GB
dc.subject.meshElectron Transport Complex IV/geneticsen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMaleen_GB
dc.subject.meshMitochondrial Myopathies/*genetics/physiopathologyen_GB
dc.subject.meshMuscle Fibers, Skeletal/pathologyen_GB
dc.subject.meshMuscle, Skeletal/pathologyen_GB
dc.subject.meshNeural Conductionen_GB
dc.subject.meshOsteoporosis/genetics/pathologyen_GB
dc.subject.meshPeripheral Nervous System Diseases/genetics/pathologyen_GB
dc.subject.meshPhenotypeen_GB
dc.subject.meshPoint Mutation/*genetics/physiologyen_GB
dc.subject.meshRNA, Transfer, Lys/*geneticsen_GB
dc.titlePhenotypic diversity associated with the mitochondrial m.8313G>A point mutation.en_GB
dc.contributor.departmentDepartment of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland., killian.orourke@gmail.comen_GB
dc.identifier.journalMuscle & nerveen_GB
dc.description.provinceLeinster-

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