Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

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• 作者：Manuel Castro-Gago^a ; David Dacruz-Alvarez^a ; Elena Pintos-Martí ; nez^b ; André ; s Beiras-Iglesias^b ; Joaquí ; n Arenas^c ; ^d ; Miguel Á ; ngel Martí ; n^c ; ^d ; Francisco Martí ; nez-Azorí ; n^c ; ^d ; ^{fmartinez@h12o.es" class="auth_mail" title="E-mail the corresponding author}
• 关键词：CHKB ; Megaconia ; Muscular dystrophy ; Neurogenic ; Muscular atrophy ; Mitochondria
• 刊名：Brain and Development
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：38
• 期：1
• 页码：167-172
• 全文大小：801 K

文摘

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).