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Abstract：
Centronuclear myopathies (CNMs) are a subgroup of congenital myopathies (CMs) characterized by muscle weakness, genetic heterogeneity, and predominant type 1 fibers and increased central nuclei in muscle biopsy. Mutations in CNM-causing genes such as MTM1, DNM2, BIN1, RYR1, CACNA1S, TTN, and extraordinary rarely SPEG (striated muscle preferentially expressed protein kinase) have been identified for about 60-80% of patients. Herein, we report a case of CM due to a novel variation in the SPEG gene, manifested by mild neonatal hypotonia, muscle weakness, delayed motor milestones, and ophthalmoplegia, without dilated cardiomyopathy. We identified a novel variation [c.153C>T (p.Asn51=) in exon 1] in the SPEG gene with whole-exome sequencing and confirmed by Sanger sequencing. Mild intellectual disability has not been associated with SPEG-related CM in the previous reports. We suggest that this report expands the phenotypic spectrum of SPEG-related CM, and further case reports are required to expand the genotype-phenotype correlations.
摘要：
中央核肌病(CNMs)是以肌无力为特征的先天性肌病(CMs)的一个亚组,遗传异质性，肌肉活检中主要的1型纤维和增加的中央核。引起CNM的基因突变，如MTM1，DNM2，BIN1，RYR1，CACNA1S，TTN,和非常罕见的SPEG（横纹肌优先表达蛋白激酶）已被鉴定为约60-80％的患者。在这里，我们报告了一例由于SPEG基因的新变异而导致的CM，表现为轻度新生儿张力减退，肌肉无力,延迟电机里程碑，和眼肌麻痹，没有扩张型心肌病.我们确定了一个新的变异[c.153C>T（p。在SPEG基因的外显子1]中的Asn51=)用全外显子组测序并通过Sanger测序证实。在以前的报告中，轻度智力残疾与SPEG相关的CM没有关联。我们建议这份报告扩展了SPEG相关CM的表型谱，需要进一步的病例报告来扩大基因型-表型相关性。
