Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report.
Neurol Clin Pract
; 14(3): e200228, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38690148
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Neurol Clin Pract
Year:
2024
Document type:
Article
Country of publication: