000			nab a22 7a 4500
999			_c16181 _d16181
003			PC16181
005			20210625062820.0
008			210119b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_91007 _aArenas Barbero, Joaquín _eInstituto de Investigación
100			_92412 _aMartín, Miguel A. _eInstituto de Investigación i+12
100			_92420 _aMartinez Azorin, Francisco _eInstituto de Investigación i+12
100			_92334 _aDelmiro Magdalena, Aitor _eBioquímica Clínica
245	0	0	_aExome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. _h[caso clínico]
260			_bEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, _c2014
300			_a18(6):796-800.
500			_aFormato Vancouver: Castro-Gago M, Dacruz-Alvárez D, Pintos-Martínez E, Beiras-Iglesias A, Delmiro A, Arenas J et al. Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. Eur J Paediatr Neurol. 2014 Nov;18(6):796-800.
501			_aPMID: 24997086
504			_aContiene 14 referencias
520			_aBackground: Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, but never in patients with an additional combined deficiency of complexes I, III and IV and mitochondrial DNA (mtDNA) depletion. Aims: To report mutations in carry genes for MDCMC with respiratory chain defects and mtDNA depletion. Methods: Whole-exome sequencing (WES) was used to identify the carry genes in a Spanish child with muscle weakness, mild hypotonia at lower limb muscles, mildly elevated creatine kinase (CK), enlarged mitochondria in the periphery of the fibers, combined deficiency of complex I, III and IV and depletion of mtDNA. Results: With WES data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The first filter of WES data with the nuclearencoded mitochondrial genes (MitoCarta) did not get any candidate. However, the analysis of whole exome uncovered a homozygous nonsense pathogenic mutation in CHKB gene (NM_005198.4:c.810T>A, p.Tyr270*). Conclusions: Our data confirm the role of CHKB in MDCMC and point to this gene as unique candidate for the combined deficiency of respiratory chain and mtDNA depletion observed in this patient.
710			_9625 _aInstituto de Investigación imas12
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc16181.pdf _ySolicitar documento
942			_2ddc _cCAS _n0