| 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. | |
MedLine Citation:
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PMID: 18952432 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
Authors:
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Luis A Aguirre; Manuel Pérez-Bas; Manuela Villamar; M Asunción López-Ariztegui; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-10-25 |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: 18 ISSN: 0960-8966 ISO Abbreviation: Neuromuscul. Disord. Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2008-12-01 Completed Date: 2009-03-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: England |
Other Details:
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Languages: eng Pagination: 979-81 Citation Subset: IM |
Affiliation:
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Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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DNA Mutational Analysis Deafness / complications, genetics* Dystonia / complications, genetics* Humans Male Membrane Transport Proteins / genetics* Mitochondrial Membrane Transport Proteins / genetics Mutation* Pedigree Polymerase Chain Reaction Spain Syndrome Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Membrane Transport Proteins; 0/Mitochondrial Membrane Transport Proteins; 0/TIMM8A protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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