A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome [3]

American Journal of Medical Genetics

Volumn 140 A, Issue 4, 2006, Pages 392-397

  Aguirre, Luis A ^a   Del Castillo, Ignacio ^a   Macaya, Alfons ^b   Medá, Carme ^c   Villamar, Manuela ^a   Moreno Pelayo, Miguel A ^a   Moreno, Felipe ^a  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CARRIER PROTEIN; MITOCHONDRIAL ENZYME; PROTEIN TIMM8A; UNCLASSIFIED DRUG;

CASE REPORT; CLINICAL FEATURE; DDP1 GENE; DYSTONIA; FAMILIAL DISEASE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HUMAN GENOME; LETTER; MALE; MITOCHONDRION; MOHR TRANEBJAERG SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; SCHOOL CHILD; SPAIN; SYNDROME;

CHILD; DEAFNESS; DYSTONIA; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; SPAIN; SYNDROME;

EID: 32444451348     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.31079     Document Type: Letter

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