Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report.

IF 2.3 Q3 CLINICAL NEUROLOGY

Neurology. Clinical practice Pub Date : 2024-06-01 Epub Date: 2024-04-26 DOI:10.1212/CPJ.0000000000200228

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

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引用次数: 0

Abstract

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.

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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。

研究目的最近在 6 个先天性肌病伴震颤家族的 13 名患者中发现了 MYBPC1 的杂合子错义变异。所有患者均有轻微的骨骼肌病，并伴有明显的肌源性震颤和肌张力低下，临床症状逐渐改善。然而，对于患者可能出现的新生儿呼吸障碍，目前还没有任何表型描述：方法：我们报告了来自两个独立家庭的 3 例新患者，他们均患有先天性肌病并伴有震颤：结果：震颤和呼吸窘迫伴有喘鸣，在新生儿肌张力低下患儿中应引起与MYBPC1显性变异相关的先天性肌病伴震颤的诊断：讨论：2例患者出现新生儿严重呼吸障碍，因呼吸困难而需要强化无创通气。此前曾有一例病例报告过呼吸困难，这也是该病例的临床特征之一。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurology. Clinical practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

0.00%

发文量

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.