Congenital Myopathies
June 10 2015
Recommended panel testing at BREDA GENETICS for this condition (EXOME PANEL): Nemaline myopathy and other congenital myopathies (ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3) Making a genetic diagnosis of congenital myopathies is not easy, but it’s necessary to assess the recurrence risk. Nance JR et al
