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.
Aguirre
Luis A
LA
del Castillo
Ignacio
I
Macaya
Alfons
A
Medá
Carme
C
Villamar
Manuela
M
Moreno-Pelayo
Miguel A
MA
Moreno
Felipe
F
D002648:Child; D003638:Deafness / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013030:Spain; D013577:Syndrome
D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C118122:TIMM8A protein, human