Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene
| Autor: | Miguel A. Martín, David Dacruz-Alvarez, Pintos-Martínez E, Andrés Beiras-Iglesias, Francisco Martínez-Azorín, Joaquín Arenas, Manuel Castro-Gago |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty DNA Mutational Analysis Aspartate transaminase 030105 genetics & heredity Choline kinase beta White People 03 medical and health sciences 0302 clinical medicine Developmental Neuroscience Internal medicine medicine Choline Kinase Humans Muscular dystrophy Muscle Skeletal Muscle biopsy biology Muscular hypotonia medicine.diagnostic_test Electromyography Infant Mitochondrial Myopathies General Medicine medicine.disease Muscular Atrophy Endocrinology Inborn error of metabolism Codon Nonsense Spain Pediatrics Perinatology and Child Health Congenital muscular dystrophy biology.protein Creatine kinase Neurology (clinical) 030217 neurology & neurosurgery |
| Zdroj: | Braindevelopment. 38(1) |
| ISSN: | 1872-7131 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect