Document Detail


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:
PMID:  18952432     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Luis A Aguirre; Manuel Pérez-Bas; Manuela Villamar; M Asunción López-Ariztegui; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-10-25
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  18     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-12-01     Completed Date:  2009-03-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  979-81     Citation Subset:  IM    
Affiliation:
Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Madrid, Spain.
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MeSH Terms
Descriptor/Qualifier:
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:
0/Membrane Transport Proteins; 0/Mitochondrial Membrane Transport Proteins; 0/TIMM8A protein, human

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