Neonatal myofibrillar myopathy type II associated with biallelic UNC-45B gene novel mutation and perinatal myasthenia as the core phenotype: A case report

Shi, Leyang; Liu, Yu; Hu, Xiaofeng; Li, Xianhong; Wu, Xueyan; Hu, Jun; Ye, Chao-qun; Dai, Qingmei; Huang, Huizhi

doi:10.1016/j.cca.2022.03.002

Clinica Chimica Acta

2022

DOI: 10.1016/j.cca.2022.03.002

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Neonatal myofibrillar myopathy type II associated with biallelic UNC-45B gene novel mutation and perinatal myasthenia as the core phenotype: A case report

Leyang Shi

Yu Liu

Xiaofeng Hu

et al.

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2024

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Mutational and clinical spectrum of myofibrillar myopathy in one center from China

Wang,

Sun,

et al. 2024

Journal of Neuromuscular Diseases

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Background: 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. Methods: We used targeted next generation sequencing (NGS) to identify causative mutations in 39 MFM patients with confirmed myopathological diagnosis. Results: 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. Conlusion: 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.

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Mutational and clinical spectrum of myofibrillar myopathy in one center from China

Wang,

Sun,

et al. 2024

Journal of Neuromuscular Diseases

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Neonatal myofibrillar myopathy type II associated with biallelic UNC-45B gene novel mutation and perinatal myasthenia as the core phenotype: A case report

Cited by 1 publication

References 15 publications

Mutational and clinical spectrum of myofibrillar myopathy in one center from China

Mutational and clinical spectrum of myofibrillar myopathy in one center from China

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