Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon Hakonarson, Sandra Mercier, Marni J Falk
{"title":"扩大与 MYBPC1 基因变异相关的先天性肌病的范围：一份临床报告。","authors":"Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon Hakonarson, Sandra Mercier, Marni J Falk","doi":"10.1212/CPJ.0000000000200228","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>Heterozygous missense variants in <i>MYBPC1</i> have been recently identified in 13 patients from 6 families with congenital myopathy with tremor. All the patients had mild skeletal myopathy invariably associated with a distinctive myogenic tremor and hypotonia with gradual clinical improvement. However, no phenotypic description has been reported for the neonatal respiratory impairment that patients may suffer.</p><p><strong>Methods: </strong>We report 3 new patients from 2 independent families with congenital myopathy with tremor.</p><p><strong>Results: </strong>Tremors and respiratory distress associated with stridor should raise the diagnosis of congenital myopathy with tremors linked to <i>MYBPC1</i>-dominant variants in children with neonatal hypotonia.</p><p><strong>Discussion: </strong>Neonatal severe respiratory impairment requiring intensive noninvasive ventilation because of stridor is described in 2 patients. Stridor was previously reported in one other case and is part of the clinical features.</p>","PeriodicalId":19136,"journal":{"name":"Neurology. Clinical practice","volume":null,"pages":null},"PeriodicalIF":2.3000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11057435/pdf/","citationCount":"0","resultStr":"{\"title\":\"Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene: A Clinical Report.\",\"authors\":\"Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon Hakonarson, Sandra Mercier, Marni J Falk\",\"doi\":\"10.1212/CPJ.0000000000200228\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>Heterozygous missense variants in <i>MYBPC1</i> have been recently identified in 13 patients from 6 families with congenital myopathy with tremor. All the patients had mild skeletal myopathy invariably associated with a distinctive myogenic tremor and hypotonia with gradual clinical improvement. However, no phenotypic description has been reported for the neonatal respiratory impairment that patients may suffer.</p><p><strong>Methods: </strong>We report 3 new patients from 2 independent families with congenital myopathy with tremor.</p><p><strong>Results: </strong>Tremors and respiratory distress associated with stridor should raise the diagnosis of congenital myopathy with tremors linked to <i>MYBPC1</i>-dominant variants in children with neonatal hypotonia.</p><p><strong>Discussion: </strong>Neonatal severe respiratory impairment requiring intensive noninvasive ventilation because of stridor is described in 2 patients. Stridor was previously reported in one other case and is part of the clinical features.</p>\",\"PeriodicalId\":19136,\"journal\":{\"name\":\"Neurology. Clinical practice\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2024-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11057435/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurology. Clinical practice\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1212/CPJ.0000000000200228\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/4/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology. Clinical practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1212/CPJ.0000000000200228","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/4/26 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report.
Objectives: Heterozygous missense variants in MYBPC1 have been recently identified in 13 patients from 6 families with congenital myopathy with tremor. All the patients had mild skeletal myopathy invariably associated with a distinctive myogenic tremor and hypotonia with gradual clinical improvement. However, no phenotypic description has been reported for the neonatal respiratory impairment that patients may suffer.
Methods: We report 3 new patients from 2 independent families with congenital myopathy with tremor.
Results: Tremors and respiratory distress associated with stridor should raise the diagnosis of congenital myopathy with tremors linked to MYBPC1-dominant variants in children with neonatal hypotonia.
Discussion: Neonatal severe respiratory impairment requiring intensive noninvasive ventilation because of stridor is described in 2 patients. Stridor was previously reported in one other case and is part of the clinical features.
期刊介绍：
Neurology® Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. The journal publishes original articles in all areas of neurogenetics including rare and common genetic variations, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease genes, and genetic variations with a putative link to diseases. Articles include studies reporting on genetic disease risk, pharmacogenomics, and results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology® Genetics, but studies using model systems for treatment trials, including well-powered studies reporting negative results, are welcome.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
