扩大与该基因变异相关的先天性肌病谱：一份临床报告。
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the Gene: A Clinical Report.
作者信息
Lanvin Pierre-Louis, Li Dong, Conrad Solène, Magot Armelle, Micaelli Xavier, Péréon Yann, Vincent Marie, Isidor Bertrand, Sternberg Damien, McCormick Elizabeth M, Hakonarson Hakon, Mercier Sandra, Falk Marni J
机构信息
CHU Nantes (P-LL, SC, MV, BI, SM), Department of Medical Genetics, France; The Center for Applied Genomics (DL, HH); Division of Human Genetics (DL, HH); Department of Pediatrics (DL, HH, MJF), Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA; CHU Nantes (AM, YP), Department of Clinical Neurophysiology; Reference Centre for Neuromuscular Disorders AOC (AM, YP, SM), Filnemus, Euro-NMD, Nantes; CHD Vendée (XM), Service de Pédiatrie, La Roche sur Yon, France; Nantes Université (MV, BI, SM), CNRS, INSERM, l'institut du thorax; APHP (DS), Metabolic Biochemistry Department, Genetics Center, Pitié-Salpêtrière Hospital Group, Center of Research in Myology, APHP Sorbonne University, Paris, France; Mitochondrial Medicine Frontier Program (EMM, MJF), Division of Human Genetics, Department of Pediatrics; and Division of Pulmonary Medicine (HH), The Joseph Stokes, Jr. Research Institute, Children's Hospital of Philadelphia, PA.
出版信息
Neurol Clin Pract. 2024 Jun;14(3):e200228. doi: 10.1212/CPJ.0000000000200228. Epub 2024 Apr 26.
OBJECTIVES
Heterozygous missense variants in 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 -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.
目的
最近在来自6个患有先天性肌病伴震颤的家族的13名患者中鉴定出了 中的杂合错义变体。所有患者均患有轻度骨骼肌病，始终伴有独特的肌源性震颤和肌张力减退，临床症状逐渐改善。然而，尚未有关于患者可能出现的新生儿呼吸功能损害的表型描述。
方法
我们报告了来自2个独立家族的3名患有先天性肌病伴震颤的新患者。
结果
震颤和与喘鸣相关的呼吸窘迫应提高对新生儿肌张力减退儿童中与 -显性变体相关的先天性肌病伴震颤的诊断。
讨论
2例患者出现了因喘鸣而需要强化无创通气的新生儿严重呼吸功能损害。喘鸣先前在另一例病例中已有报道，是临床特征的一部分。
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