BIN1-related centronuclear myopathy (BIN1-CNM)
Evidence-based neurology checklist on bin1-related centronuclear myopathy (bin1-cnm): Muscle features Ophthalmoplegia without facial weakness Proximal limb weakness Prominent axial weakness Scapular winging Exercise intolerance: this may be isolated Myalgia Well-developed muscles Skeletal features…
Muscle features
- Ophthalmoplegia without facial weakness
- Proximal limb weakness
- Prominent axial weakness
- Scapular winging
- Exercise intolerance: this may be isolated
- Myalgia
- Well-developed muscles
Skeletal features
Other features
Magnetic resonance imaging (MRI) muscle fatty infiltration: sites
Muscle biopsy: features
References
- Kouwenberg C, Bohm J, Erasmus C, et al. Dominant centronuclear myopathy with early childhood onset due to a novel mutation in BIN1. J Neuromuscul Dis 2017; 4:349-355.
- Cabrera-Serrano M, Mavillard F, Biancalana V, et al. A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. Neurology 2018; 91:e339-e348.
- Böhm J, Biancalana V, Malfatti E, et al. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain 2014; 137:3160-3170.
- Garibaldi M, Böhm J, Fattori F, et al. Novel dominant mutation in BIN1 gene causing mild centronuclear myopathy revealed by myalgias and CK elevation. J Neuromuscul Dis 2016; 3:111-114.
- Mejaddam AY, Nennesmo I, Sejersen T. Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. Acta Myol 2009; 28:91-93.
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