Myosinopathy: clinical features
Evidence-based neurology checklist on myosinopathy: clinical features: Onset features Onset age is usually in adulthood It can however present from birth to childhood Weakness: frequent patterns Weakness: less frequent patterns Cardiac features Skeletal features Congenital features Other features…
Onset features
- Onset age is usually in adulthood
- It can however present from birth to childhood
Weakness: frequent patterns
Weakness: less frequent patterns
Cardiac features
Skeletal features
Congenital features
Other features
Differential diagnosis
References
- Fiorillo C, Astrea G, Savarese M, et al. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet J Rare Dis 2016; 11:91.
- Lamont PJ, Wallefeld W, Hilton-Jones D, et al. Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat 2014; 35:868-879.
- Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E. Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene. Gene 2019; 697:159-164.
