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Congenital myopathy causing genes

The new genes not previously linked to a congenital myopathy are indicated in bold and underlined. (From: de Feraudy Y, Vandroux M, Romero NB, et al. Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations. Genome Med 2024;16(1):87.)

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Associated Disorders

  • Congenital muscular dystrophies
  • Congenital myopathies
  • Hypertrophic cardiomyopathies
  • Malignant hyperthermia
  • Malignant hyperthermia susceptibility