title: Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.
abstract: 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).
authors.affiliation: Servicio de Neuropediatría, Departamento de Pediatría, Hospital Clínico Universitario, Facultad de Medicina, Santiago de Compostela, Spain.
authors.forename: Manuel
authors.initials: M
authors.lastname: Castro-Gago
authors.affiliation: Servicio de Neuropediatría, Departamento de Pediatría, Hospital Clínico Universitario, Facultad de Medicina, Santiago de Compostela, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Dacruz-Alvarez
authors.affiliation: Servicio de Anatomía Patológica, Hospital Clínico Universitario, Facultad de Medicina, Santiago de Compostela, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Pintos-Martínez
authors.affiliation: Servicio de Anatomía Patológica, Hospital Clínico Universitario, Facultad de Medicina, Santiago de Compostela, Spain.
authors.forename: Andrés
authors.initials: A
authors.lastname: Beiras-Iglesias
authors.affiliation: Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (i+12), E-28041 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041 Madrid, Spain.
authors.forename: Joaquín
authors.initials: J
authors.lastname: Arenas
authors.affiliation: Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (i+12), E-28041 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041 Madrid, Spain.
authors.forename: Miguel Ángel
authors.initials: MÁ
authors.lastname: Martín
authors.affiliation: Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (i+12), E-28041 Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041 Madrid, Spain. Electronic address: fmartinez@h12o.es.
authors.forename: Francisco
authors.initials: F
authors.lastname: Martínez-Azorín
mesh_terms: D002797:Choline Kinase / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004576:Electromyography; D006801:Humans; D007223:Infant; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D013030:Spain; D044465:White People / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C542592:CHKB protein, human; D002797:Choline Kinase
keywords: CHKB; Megaconia; Mitochondria; Muscular atrophy; Muscular dystrophy; Neurogenic