A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

Crimi, M; Galbiati, S; Perini, M P; Bordoni, A; Malferrari, G; Sciacco, M; Biunno, I; Strazzer, S; Moggio, M; Bresolin, N; Comi, G P

Crimi, M; Galbiati, S; Perini, M P; Bordoni, A; Malferrari, G; Sciacco, M; Biunno, I; Strazzer, S; Moggio, M; Bresolin, N; Comi, G P.

Affiliation

Crimi M; Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Università degli Studi di Milano, I.R.C.C.S. Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, Italy. neurogene@policlinico.mi.it

Neurology ; 60(7): 1200-3, 2003 Apr 08.

Article in En | MEDLINE | ID: mdl-12682337

Subject(s)

Hearing Loss, Sensorineural/genetics; Mitochondria/genetics; Mutation; RNA, Transfer, His/genetics; Retinitis Pigmentosa/genetics; Adult; Ataxia/complications; Ataxia/genetics; Base Sequence; Cataract/complications; Cataract/genetics; Conserved Sequence; DNA Mutational Analysis; Disease Progression; Female; Hearing Loss, Sensorineural/complications; Humans; Male; Middle Aged; Molecular Sequence Data; Muscle Fibers, Fast-Twitch/pathology; Muscular Diseases/complications; Muscular Diseases/genetics; Nucleic Acid Conformation; Phenotype; Retinitis Pigmentosa/complications; Siblings; Testicular Diseases/complications; Testicular Diseases/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: RNA, Transfer, His / Retinitis Pigmentosa / Hearing Loss, Sensorineural / Mitochondria / Mutation Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Neurology Year: 2003 Document type: Article

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