摘要
报告1例CRPPA基因变异所致常染色体隐性遗传性肢带型肌营养不良症患者,总结CRPPA基因相关肌病的临床特点和致病变异谱。患者主要临床表现为双下肢无力7年,进行性加重。血清肌酸激酶水平轻度增高。肌电图提示肌源性损害。肌肉MRI表现为双侧大腿、小腿多发肌群信号异常。骨骼肌活检组织电镜下可见肌细胞胞浆内肌浆网轻度扩张,小脂滴轻度增多,可见少量萎缩肌细胞。基因检测提示携带CRPPA基因c.1114_1116delGTT(p.V372del)纯合变异。患者父母携带该位点杂合变异。根据ACMG指南将该变异分类为致病性变异。患者明确诊断为肌营养不良-抗肌萎缩相关糖蛋白病C7型。本文拓展了CRPPA基因和抗肌萎缩相关糖蛋白病的遗传变异谱和临床表型谱。
To report a patient with autosomal recessive limb-girdle muscular dystrophy caused by CRPPA gene variant,and to summarize the clinical characteristics and pathogenic variant spectrum of CRPPA gene-related myopathy.The main clinical manifestations of the patient were progressive lower limb weakness for seven years.Lab test revealed a slight increase in serum creatine kinase level and electromyography suggested myogenic damage.Muscle MRI showed abnormal signals of multiple muscle groups in both thighs and calves.A slight expansion of the sarcoplasmic reticulum and a slight increase of small lipid droplets were detected in skeletal muscle biopsy by electron microscope.Meanwhile,a small number of atrophic muscle cells were identified.The genetic testing found that the patient carried a homozygous variant of the CRPPA gene c.1114_1116delGTT(p.V372del).The patient's parents carry this variant in heterozygous state.This variant was classified as pathogenic according to the ACMG guidelines.The patient can be definitively diagnosed with muscular dystrophy-dystroglycanopathy type C7.In this report,we expand the genetic variant and clinical phenotype spectrums of the CRPPA gene and dystroglycanopathy.
作者
杨媛媛
刘蕊
范宽
韩璐
刘嘉鹏
李世容
瞿浩
王添阳
刘坤雪灵
胡晓
YANG Yuanyuan;LIU Rui;FAN Kuan;HAN Lu;LIU Jiapeng;LI Shirong;QU Hao;WANG Tianyang;LIU Kunxuelin;HU Xiao(Department of Neurology,Medical college of Guizhou University,Guizhou Provincial People’s Hospital,Guiyang 550002,Guizhou)
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
2023年第7期431-435,共5页
Chinese Journal of Nervous and Mental Diseases
基金
贵州省科技计划项目(编号:黔科合支撑[2021]一般077
黔科合基础[2019]1196)
国家自然地区基金项目(编号:82060228)
贵州省人民医院国家自然科学基金后补助资金(编号:GPPH-NSFC-D-2020-17)
贵州省高层次人才创新创业择优资助项目(编号:[2021]05号)
贵州省科技计划项目-临床专项(编号:黔科合成果-LC[2022]021)。
