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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.