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

Neuromuscular Disorders

Volumn 18, Issue 12, 2008, Pages 979-981

  Aguirre, Luis A ^a,b   Pérez Bas, Manuel ^c   Villamar, Manuela ^a,b   López Ariztegui, M Asunción ^c   Moreno Pelayo, Miguel A ^a,b   Moreno, Felipe ^a,b   del Castillo, Ignacio ^a,b  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL DE CRUCES   (Spain)

Author keywords

DDP1; Dystonia; Hearing impairment; Mohr Tranebjaerg syndrome; TIMM8a

Indexed keywords

CARRIER PROTEIN; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL PROTEIN TIMM8A; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEAFNESS DYSTONIA PEPTIDE 1 GENE; DYSTONIA; GENE; GENE MUTATION; GENETIC VARIABILITY; GENETICS; HEARING IMPAIRMENT; HUMAN; MALE; MOHR TRANEBJAERG SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

DEAFNESS; DNA MUTATIONAL ANALYSIS; DYSTONIA; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SPAIN; SYNDROME; YOUNG ADULT;

EID: 56649083543     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.09.009     Document Type: Article

References (7)

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