ArticleNeurology. Clinical practice2024
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the
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Article in Neurology. Clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1citing papers in PubMed
1.2field-weighted citation impact, top 20% of its field
What it found
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Who cites it
1 citing paper in PubMed, 3 citations in OpenAlex.
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Authors and funding
13 authors at 1 institution in 1 country.
Pierre-Louis LanvinCHU 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.ORCID https://orcid.org/0009-0001-6660-0688
Dong LiCHU 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.ORCID https://orcid.org/0000-0002-2265-6727
Solène ConradCHU 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.ORCID https://orcid.org/0000-0003-4996-8357
Armelle MagotCHU 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.ORCID https://orcid.org/0000-0002-7589-1421
Xavier MicaelliCHU 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.
Yann PéréonCHU 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.ORCID https://orcid.org/0000-0002-0090-3571
Marie VincentCHU 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.ORCID https://orcid.org/0000-0003-1010-5618
Bertrand IsidorCHU 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.ORCID https://orcid.org/0000-0001-6480-126X
Damien SternbergCHU 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.ORCID https://orcid.org/0000-0001-7877-7395
Elizabeth M McCormickCHU 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.ORCID https://orcid.org/0000-0002-5478-8046
Hakon HakonarsonCHU 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.ORCID https://orcid.org/0000-0003-2814-7461
Sandra MercierCHU 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.ORCID https://orcid.org/0000-0002-6627-8748
Marni J FalkCHU 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.ORCID https://orcid.org/0000-0002-1723-6728
Children's Hospital of Philadelphia · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: Heterozygous missense variants in 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 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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