000			nab a22 7a 4500
999			_c17700 _d17700
003			PC17700
005			20231019120759.0
008			231019b xxu||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_91007 _aArenas Barbero, Joaquín _eInstituto de Investigación
100			_93056 _aMartín, Miguel Ángel _eInstituto de investigación imas12
100			_92420 _aMartinez Azorin, Francisco _eInstituto de Investigación i+12
245	0	0	_aCongenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. _h[caso clínico]
260			_bBrain & development, _c2016
300			_a38(1):167-72.
500			_aFormato Vancouver: Castro Gago M, Dacruz Álvarez D, Pintos Martínez E, Beiras Iglesias A, Arenas J, Martín MÁ et al. Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. Brain Dev. 2016 Jan;38(1):167-72.
501			_aPMID: 26006750
504			_aContiene 15 referencias
520			_aCholine kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more intense at lower limb muscles, mildly elevated creatine kinase (CK), serum aspartate transaminase (AST) and lactate. Electromyography (EMG) showed neurogenic potentials in the proximal muscles. Histological studies of a muscle biopsy showed neurogenic atrophy with enlarged mitochondria in the periphery of the fibers, and complex I deficiency. Finally, genetic analysis showed the presence of a homozygous mutation in the gene for choline kinase beta (CHKB: NM_005198.4:c.810T>A, p.Tyr270(∗)). We describe here the second Spanish patient whit mutation in CHKB gene, who despite having the same mutation, presented an atypical aspect: congenital neurogenic muscular atrophy progressing to a combined neuropathic and myopathic phenotype (mixed pattern).
710			_9625 _aInstituto de Investigación imas12
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc17700.pdf _ySolicitar documento
942			_2ddc _cCAS _n0