Rene F. M. de Coo

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The genomic organization of the human 51-kDa subunit gene (NDUFV1) on human Chromosome (Chr) 11q13 was determined. The NDUFV1 gene consists of 10 exons. Exon 1 encodes for the 20-amino-acids-long import sequence, and exon 1 through 10 codes for the 444-amino-acids-long mature protein. The protein sequence is highly conserved between human and bovine.(More)
A young boy presented with severe muscle weakness of his legs at the age of 2 years. Muscle morphology and computer tomography imaging findings were compatible with a metabolic myopathy. Additional investigation showed an osteopenic skeleton and signs of healing fractures. A skin biopsy showed an abnormal electrophoresis pattern of collagen, consistent with(More)
Sir, The letter by Haack et al. (2014) provides important information confirming the role of the thiamine transporter hTHTR2 in Leigh syndrome and the beneficial effect of biotin and/or thiamine treatment for patients harbouring mutations in the gene encoding hTHTR2, SLC19A3. In recent years many new pathogenic mutations have been reported in SLC19A3(More)
Laboratoire BECP—EA2943 UJF/LRA6V CEA—DBMS, CEA Grenoble, 17 rue des Martyrs, 38054 Grenoble, cedex 9, France Génome Express SA, 38054 Grenoble, France Faculté de Médecine de la Timone, INSERM U 406, 13385 Marseille, France Laboratoire de Biochimie, Hôpital Debrousse, 69322 Lyon, France Service de Biologie, Hôpital de la Timone, 13385 Marseille, France(More)
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