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Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report
Pierre-Louis Lanvin1, Dong Li1, Solène Conrad1
1CHU 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.
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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