Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene. [caso clínico]
Por: Arenas Barbero, Joaquín [Instituto de Investigación]
| Martín, Miguel Ángel [Instituto de investigación imas12] | Martinez Azorin, Francisco [Instituto de Investigación i+12].
Colaborador(es): Instituto de Investigación imas12.
Tipo de material: 
ArtículoEditor: Brain & development, 2016Descripción: 38(1):167-72.Recursos en línea: Solicitar documento Resumen: Choline 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).
| Tipo de ítem | Ubicación actual | Signatura | Estado | Fecha de vencimiento |
|---|---|---|---|---|
Caso clínico
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PC17700 (Navegar estantería) | Disponible |
Formato 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.
PMID: 26006750
Contiene 15 referencias
Choline 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).
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