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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2007-8-28
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pubmed:abstractText |
In clinical practice, mitochondrial disease is seldom considered until a variable combination of seizures, alteration in tone, muscle weakness, and developmental problems is evident. However, it is not uncommon for one symptom to occur in isolation and dominate the clinical phenotype. We report six patients from two families where dystonia was the principal clinical manifestation. A mitochondrial etiology was considered in each case because of the association of dystonia with other less prominent clinical features such as epilepsy.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1526-632X
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pubmed:author |
pubmed-author:BlakelyE LEL,
pubmed-author:ChinneryP FPF,
pubmed-author:DormanP JPJ,
pubmed-author:FosterS MSM,
pubmed-author:McFarlandRR,
pubmed-author:MorrisA A MAA,
pubmed-author:RameshVV,
pubmed-author:SchaeferA MAM,
pubmed-author:TaylorR WRW,
pubmed-author:TuppenH A LHA,
pubmed-author:TurnbullD MDM
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pubmed:issnType |
Electronic
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pubmed:day |
28
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pubmed:volume |
69
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
911-6
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pubmed:dateRevised |
2011-1-5
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pubmed:meshHeading |
pubmed-meshheading:17724295-Adult,
pubmed-meshheading:17724295-Basal Ganglia,
pubmed-meshheading:17724295-Basal Ganglia Diseases,
pubmed-meshheading:17724295-DNA, Mitochondrial,
pubmed-meshheading:17724295-DNA Mutational Analysis,
pubmed-meshheading:17724295-Diagnosis, Differential,
pubmed-meshheading:17724295-Dystonia,
pubmed-meshheading:17724295-Epilepsy,
pubmed-meshheading:17724295-Female,
pubmed-meshheading:17724295-Genetic Predisposition to Disease,
pubmed-meshheading:17724295-Genetic Testing,
pubmed-meshheading:17724295-Genotype,
pubmed-meshheading:17724295-Humans,
pubmed-meshheading:17724295-Inheritance Patterns,
pubmed-meshheading:17724295-Male,
pubmed-meshheading:17724295-Middle Aged,
pubmed-meshheading:17724295-Mitochondrial Diseases,
pubmed-meshheading:17724295-Muscle, Skeletal,
pubmed-meshheading:17724295-Mutation,
pubmed-meshheading:17724295-Optic Atrophy, Hereditary, Leber,
pubmed-meshheading:17724295-Pedigree,
pubmed-meshheading:17724295-RNA, Transfer
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pubmed:year |
2007
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pubmed:articleTitle |
Homoplasmy, heteroplasmy, and mitochondrial dystonia.
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pubmed:affiliation |
Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, Newcastle upon Tyne, UK. robert.mcfarland@ncl.ac.uk
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pubmed:publicationType |
Journal Article,
Case Reports
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