RYR1 centronuclear myopathy (RYR1-CNM)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
RYR1 centronuclear myopathy (RYR1-CNM). Hypotonia, Motor developmental delay, Proximal weakness, Ptosis. Fully referenced neurology checklist.
Clinical features
- Hypotonia
- Motor developmental delay
- Proximal weakness
- Ptosis
- Ophthalmoparesis
- Facial weakness
- Bulbar weakness
- Thoracic deformities
Magnetic resonance imaging (MRI): affected muscles
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Magnetic resonance imaging (MRI): relatively spared muscles
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Muscle biopsy: features
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References
- Abath Neto O, Moreno CAM, Malfatti E, et al. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscul Disord 2017; 27:975-985.
- Wilmshurst JM, Lillis S, Zhou H, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010; 68:717-726.
- Jungbluth H, Davis MR, Müller C, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 2004; 14:785-790.
