Megaconial congenital muscular dystrophy (OMIM 602541) is defined by early-onset hypotonia, mildly elevated serum creatine kinase (CK) levels, muscle wasting, cardiomyopathy, psychomotor developmental delay and intellectual disability. The disease is caused by loss-of-function mutations in Choline kinase beta gene (CHKB) and has specific muscle biopsy findings. Here we investigate two patients with weakness of proximal muscles and generalized muscle atrophy, skin changes, agressiveness, social communication and empathy difficulties. Both patients had mildly elevated serum CK levels. Whole exome sequencing (WES) performed for both patients and homozygous c.818+1G>A and homozygous c.1031+1G>A variants were detected in patient 1 and patient 2, respectively. We would like to draw the attention of autism spectrum disorder in early diagnosis of congenital muscular dystrophies.


中文翻译：

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自闭症谱系障碍的一种罕见原因：巨锥肌营养不良


巨型圆锥形先天性肌营养不良症（OMIM 602541）的定义为：早发性肌张力低下，血清肌酸激酶（CK）轻度升高，肌肉消瘦，心肌病，精神运动发育迟缓和智力残疾。该疾病是由胆碱激酶β基因（CHKB）的功能丧失突变引起的，并具有特定的肌肉活检结果。在这里，我们调查了两名患者的近端肌肉无力和普遍性肌肉萎缩，皮肤改变，攻击性，社交沟通和同情困难。两名患者的血清CK水平均轻度升高。对患者和患者2分别进行了纯外显子c.818 + 1G> A和纯合c.1031 + 1G> A变异的全外显子组测序（WES）。