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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.

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第一作者： Iliana A,Chatzispyrou

第一单位： Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands.

作者： Iliana A,Chatzispyrou ^[1] ; Marielle,Alders ^[2] ; Sergio,Guerrero-Castillo ^[3] ; Ruben,Zapata Perez ^[1] ; Martin A,Haagmans ^[2] ; Laurent,Mouchiroud ^[4] ; Janet,Koster ^[1] ; Rob,Ofman ^[1] ; Frank,Baas ^[2] ; Hans R,Waterham ^[1] ; Johannes N,Spelbrink ^[3] ; Johan,Auwerx ^[4] ; Marcel M,Mannens ^[2] ; Riekelt H,Houtkooper ^[1] ; Astrid S,Plomp ^[2]

作者单位： Laboratory Genetic Metabolic Diseases, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands. ^[1] Department of Clinical Genetics, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands. ^[2] Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. ^[3] Laboratory for Integrative and Systems Physiology, Ecole Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland. ^[4]