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rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0039082,
umls-concept:C0086409,
umls-concept:C0205314,
umls-concept:C0205422,
umls-concept:C0449432,
umls-concept:C0582119,
umls-concept:C0679058,
umls-concept:C0679622,
umls-concept:C0949610,
umls-concept:C1179435,
umls-concept:C1420740,
umls-concept:C1524073,
umls-concept:C1533148,
umls-concept:C1547699,
umls-concept:C1548799,
umls-concept:C1704241,
umls-concept:C1705248,
umls-concept:C2700640
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|
pubmed:issue |
12
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pubmed:dateCreated |
2008-12-1
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|
pubmed:abstractText |
Mohr-Tranebjaerg syndrome is a rare X-linked condition characterized by the association of dystonia and progressive postlingual sensorineural hearing impairment. Here we report the clinical and genetic findings in a Spanish patient with MTS carrying a novel mutation in the DDP1 (deafness-dystonia peptide 1) gene, which encodes TIMM8a, a component of the mitochondrial protein translocation system. The phenotypic variability observed in patients with Mohr-Tranebjaerg syndrome suggests the involvement of modifier factors which may modulate the clinical manifestations of the syndrome.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
|
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pubmed:issn |
0960-8966
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
18
|
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
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pubmed:pagination |
979-81
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pubmed:meshHeading |
pubmed-meshheading:18952432-DNA Mutational Analysis,
pubmed-meshheading:18952432-Deafness,
pubmed-meshheading:18952432-Dystonia,
pubmed-meshheading:18952432-Humans,
pubmed-meshheading:18952432-Male,
pubmed-meshheading:18952432-Membrane Transport Proteins,
pubmed-meshheading:18952432-Mitochondrial Membrane Transport Proteins,
pubmed-meshheading:18952432-Mutation,
pubmed-meshheading:18952432-Pedigree,
pubmed-meshheading:18952432-Polymerase Chain Reaction,
pubmed-meshheading:18952432-Spain,
pubmed-meshheading:18952432-Syndrome,
pubmed-meshheading:18952432-Young Adult
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pubmed:year |
2008
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pubmed:articleTitle |
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
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|
pubmed:affiliation |
Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
