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

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics. Part A 2006-02, Vol.140A (4), p.392-397
Hauptverfasser:	Aguirre, Luis A., del Castillo, Ignacio, Macaya, Alfons, Medá, Carme, Villamar, Manuela, Moreno-Pelayo, Miguel A., Moreno, Felipe
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Child Deafness - genetics Diseases of the osteoarticular system Dystonia - genetics Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Humans Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Membrane Transport Proteins - genetics Mitochondrial Membrane Transport Proteins Mutation - genetics Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Non tumoral diseases Otorhinolaryngology. Stomatology Pedigree Spain Syndrome
Online-Zugang:	Volltext
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