机构：[1]Department of Neurology, Peking University First Hospital, Beijing, China.[2]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.神经科系统神经内科首都医科大学宣武医院[3]Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.[4]Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
Myofibrillar myopathy (MFM) is a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk and disintegration of myofibrils. OBJECTIVE: We aimed to analyze the mutational spectrum and phenotypic features of MFM in China.We used targeted next generation sequencing (NGS) to identify causative mutations in 39 MFM patients with confirmed myopathological diagnosis.The results showed that variants were found in six MFM-associated genes, including DES, FLNC, BAG3, MYOT, TTN and DNAJB6, in 28 (71.7%), 3 (7.7%), 3 (7.7%), 1 (2.6%), 3 (7.7%), and 1 (2.6%), respectively. Of the total 26 variants identified, 19 were reported previously and 7 were novel variants. Missense variant (80.0%) was the most common mutant type of DES. P209L was the hotspot mutation of BAG3 while no obvious hotspot mutation was found of DES. Clinically, distal and proximal weakness were observed in 64.1% and 35.9% patients. Arrythmia and peripheral neuropathy were the most common combined symptoms of desminopathy and BAG3opathy, respectively. Pathologically, rimmed vacuoles (RVs) were present in different genetic type of MFM. Giant axonal nerve fiber was found in BAG3-releated MFM patient.We concluded that MFM showed a highly variable genetic spectrum, with DES as the most frequent causative gene followed by FLNC, BAG3 and TTN. This study expanded the genotypic and phenotypic spectrum of MFM among Chinese cohort.
基金：
National High
Level Hospital Clinical Research Funding (High Quality Clinical
Research Project of Peking University First Hospital) 2023HQ03.
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2023]版：
大类|4 区医学
小类|4 区临床神经病学4 区神经科学
最新[2023]版：
大类|4 区医学
小类|4 区临床神经病学4 区神经科学
第一作者：
第一作者机构：[1]Department of Neurology, Peking University First Hospital, Beijing, China.[2]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
共同第一作者：
通讯作者：
通讯机构：[1]Department of Neurology, Peking University First Hospital, Beijing, China.[4]Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.
推荐引用方式(GB/T 7714)：
Wang Qi,Sun Peng,Yu Meng,et al.Mutational and clinical spectrum of myofibrillar myopathy in one center from China[J].Journal Of Neuromuscular Diseases.2024,11(6):1247-1259.doi:10.1177/22143602241289220.
APA：
Wang Qi,Sun Peng,Yu Meng,Xie Zhiying,Yu Jiaxi...&Zhang Wei.(2024).Mutational and clinical spectrum of myofibrillar myopathy in one center from China.Journal Of Neuromuscular Diseases,11,(6)
MLA：
Wang Qi,et al."Mutational and clinical spectrum of myofibrillar myopathy in one center from China".Journal Of Neuromuscular Diseases 11..6(2024):1247-1259
