Actinopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Actinopathy. This is caused by mutations in the ACTN2 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ACTN2 gene
- The gene encodes alpha actinin2: this is a Z-line regulator
- The transmission is autosomal dominant
- ACTN2 mutations also cause cardiomyopathy with skeletal muscle involvement
Onset features
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Neurological features
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Systemic features
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Muscle pathology: features
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References
- Savarese M, Palmio J, Poza JJ, et al. Actininopathy: a new muscular dystrophy caused by ACTN2 dominant mutations. Ann Neurol 2019; 85:899-906.
- Ranta-Aho J, Olive M, Vandroux M, et al. Mutation update for the ACTN2 gene. Hum Mutat 2022; 43:1745-1756.
- Lornage X, Romero NB, Grosgogeat CA, et al. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol 2019; 137:501-519.
