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Table 1 Clinical features of the syndrome, based on the three probands in two families

From: Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Feature Description
Growth Normal growth
Development Normal early milestones and intelligence, presenting with neuromuscular weakness in childhood
Facial No abnormalities noticed
Musculoskeletal No bone deformities; progressive myopathy
Integument Normal
Cardiac Progressive cardiomyopathya
Liver Normal
Neurologic Muscular weakness and muscle atrophy
Genital Normal
  1. aThe severity of progressive cardiomyopathy differs between patients.