Filamin myopathy
Evidence-based neurology checklist on filamin myopathy: Genetics This is caused by mutations in the FLNC gene The gene is also associated with a familial hypertrophic cardiomyopathy The mean onset age is 44 years Weakness patterns Cardiac features Other features Muscle biopsy: features Creatinine…
Genetics
- This is caused by mutations in the FLNC gene
- The gene is also associated with a familial hypertrophic cardiomyopathy
- The mean onset age is 44 years
Weakness patterns
Cardiac features
Other features
Muscle biopsy: features
Creatinine kinase (CK)
References
- Kley RA, Hellenbroich Y, van der Ven PFM, et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 2007; 130:3250-3264.
- Valdés-Mas R, Gutiérrez-Fernández A, Gómez J, et al. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nat Commun 2014; 5:5326.
- Guergueltcheva V, Peeters K, Baets J, et al. Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. Neurology 2011; 77:2105-2114.
- Fürst DO, Goldfarb LG, Kley RA, Vorgerd M, Olivé M, van der Ven PF. Filamin C-related myopathies: pathology and mechanisms. Acta Neuropathol 2013; 125:33-46.
- Kley RA, van der Ven PF, Olivé M, et al. Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. Autophagy 2013; 9:422-423.
