Clinicopathological features of titinopathy from a Chinese neuromuscular center

Huang, Kun; Duan, Hui-Qian; Li, Qiuxiang; Luo, Yue‐Bei; Bi, Fangfang; Yang, Huan

doi:10.1111/neup.12761

Cited by 9 publications

(11 citation statements)

References 26 publications

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“…The diagnosis of congenital myopathy should be based on a careful review of the clinical features and confirmed by additional investigations, with an exclusionary diagnosis of other myopathies (2,3). Previously, histopathologically oriented classification was widely used for the diagnosis of congenital myopathy, which, although still in use, tends to be replaced by genetic diagnosis in the golden era of modern genetics (4)(5)(6). Accordingly, congenital myopathy can be divided into the following several forms: nemaline myopathy, core myopathy (central core myopathy and multiminicore myopathy), centronuclear myopathy (myotubular myopathy), congenital fiber-type disproportion myopathy, and other congenital myopathies (4).…”

Section: Introductionmentioning

confidence: 99%

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Huang

Yang

2021

Front. Neurol.

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Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-analysis of the literature.Methods: The PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched for original research articles published in English prior to July 30, 2021. The quality of the included studies was assessed by a checklist adapted from STrengthening the Reporting of OBservational studies in Epidemiology (STROBE). To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random effects model. Heterogeneity was assessed using the Cochrane Q statistic as well as the I2 statistic.Results: A total of 11 studies were included in the systematic review and meta-analysis. Of the 11 studies included, 10 (90.9%) were considered medium-quality, one (9.1%) was considered low-quality, and no study was assessed as having a high overall quality. The pooled prevalence of congenital myopathy in the all-age population was 1.50 (95% CI, 0.93–2.06) per 100,000, while the prevalence in the child population was 2.73 (95% CI, 1.34–4.12) per 100,000. In the pediatric population, the prevalence among males was 2.92 (95% CI, −1.70 to 7.55) per 100,000, while the prevalence among females was 2.47 (95% CI, −1.67 to 6.61) per 100,000. The prevalence estimates of the all-age population per 100,000 were 0.20 (95% CI 0.10–0.35) for nemaline myopathy, 0.37 (95% CI 0.21–0.53) for core myopathy, 0.08 (95% CI −0.01 to 0.18) for centronuclear myopathy, 0.23 (95% CI 0.04–0.42) for congenital fiber-type disproportion myopathy, and 0.34 (95% CI, 0.24–0.44) for unspecified congenital myopathies. In addition, the prevalence estimates of the pediatric population per 100,000 were 0.22 (95% CI 0.03–0.40) for nemaline myopathy, 0.46 (95% CI 0.03–0.90) for core myopathy, 0.44 (95% CI 0.03–0.84) for centronuclear myopathy, 0.25 (95% CI −0.05 to 0.54) for congenital fiber-type disproportion myopathy, and 2.63 (95% CI 1.64–3.62) for unspecified congenital myopathies.Conclusions: Accurate estimates of the prevalence of congenital myopathy are fundamental to supporting public health decision-making. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher-quality studies on orphan diseases.

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Section: Introductionmentioning

confidence: 99%

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Huang

Yang

2021

Front. Neurol.

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“…She has negative genetic testing for SEPT9 gene mutations, and no potentially relevant 4), which has been associated with muscle disease and arrhythmogenic cardiomyopathy. 10 It is not clear if these heterozygous mutations may have played a role in the plexopathy, as non-synonymous heterozygous variations of the TTN gene have been associated with neurological diseases in an autosomal dominant manner. She also had a mutation in MCM3AP gene (MCM3AP; Table 4).…”

Section: Discussionmentioning

confidence: 99%

Recurrent brachial plexopathy as initial presentation of systemic lupus erythematosus: A case report and review of the literature

El-Dokla

Bonilla

Ali

et al. 2022

Lupus

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Background Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects many organs of the body including the peripheral nervous system (PNS) which has potential significant impact. Plexopathy is rare but one of the serious PNS manifestations of lupus. Case A 41-year-old female presented with recurrent attacks of painful brachial plexopathy and right hemi-diaphragmatic paralysis. After extensive workup, she was diagnosed with SLE and started on hydroxychloroquine and mycophenolate mofetil. The frequency and severity of the attacks of plexopathy has significantly improved after starting the immune suppressive therapy for SLE. Whole exome sequencing unveiled previously unreported mutations encoding non-synonymous amino acids in titin and minichromosome maintenance 3-associated protein. Conclusion Recurrent attacks of painful brachial plexopathy may warrant careful evaluation for underlying SLE with a premise of therapeutic benefit.

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“…Informed consent for participation in our research was obtained from all of the patients, as previously reported in our centre. 9 …”

Section: Methodsmentioning

confidence: 99%

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

Zhang

Duan

et al. 2021

J Cellular Molecular Medi

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GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder. Although GNE, which is the mutated gene responsible for the disease, is well known as the key enzyme in the biosynthesis pathway of sialic acid, the clinicopathological-genetic spectrum of GNE mutant patients is still unclear and expanding. This study presents ten unrelated patients with GNE myopathy, discovering five novel missense mutations. Clinical, electrophysiological, imaging, pathological and genetic data are presented in a retrospective manner. Interestingly, several patients in the cohort were found to have peripheral neuropathy and inflammatory cell infiltration in muscle biopsies, which have seldom been reported. This study, conducted by a neuromuscular centre in China, is the first attempt to highlight these abnormal clinicopathological features and associate them with genetic mutations in GNE myopathy.

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Clinicopathological features of titinopathy from a Chinese neuromuscular center

Cited by 9 publications

References 26 publications

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Recurrent brachial plexopathy as initial presentation of systemic lupus erythematosus: A case report and review of the literature

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

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