Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report
Neurol Clin Pract. 2024 Jun;14(3):e200228. doi: 10.1212/CPJ.0000000000200228. Epub 2024 Apr 26. ABSTRACT OBJECTIVES: Heterozygous missense variants in MYBPC1 have been recently identified in 13 patients …