Autosomal dominant centronucelar myopathy (DNM2-CNM)
Evidence-based neurology checklist on autosomal dominant centronucelar myopathy (dnm2-cnm): Developmental features Dysmorphic appearance Hypotonia Delayed motor milestones Neurological features Skeletal features Pulmonary features Other features Magnetic resonance imaging (MRI): affected muscles…
Developmental features
- Dysmorphic appearance
- Hypotonia
- Delayed motor milestones
Neurological features
Skeletal features
Pulmonary features
Other features
Magnetic resonance imaging (MRI): affected muscles
Differential diagnosis
References
- Cassandrini D, Trovato R, Rubegni A, et al; Italian Network on Congenital Myopathies. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr 2017; 43:101.
- Fischer D, Herasse M, Bitoun M, et al. Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain 2006; 129:1463-1469.
- Susman RD, Quijano-Roy S, Yang N, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord 2010; 20:229-237.
- Hanisch F, Müller T, Dietz A, et al. Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. J Neurol 2011; 258:1085-1090.
- Echaniz-Laguna A, Nicot AS, Carré S, et al. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Neuromuscul Disord 2007; 17:955-959.
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