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

Pierre-Louis Lanvin Dong Li Solène Conrad Armelle MagotXavier MicaelliYann Péréon Marie Vincent Bertrand Isidor Damien Sternberg Elizabeth M McCormick Hakon H Hakonarson Sandra Mercier Marni J Falk

Published in: Neurology. Clinical practice (2024)

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.

Keyphrases

end stage renal disease
copy number
ejection fraction
newly diagnosed
peritoneal dialysis
prognostic factors
early onset
late onset
genome wide
intensive care unit
hypertrophic cardiomyopathy
patient reported outcomes
transcription factor
respiratory failure
patient reported
genome wide identification