Myosinopathy: management
Evidence-based neurology checklist on myosinopathy: management: Muscle biopsy Minicores Eccentric cores Centrally located nuclei Fibre type disproportion Selective type 1 fibre hypertrophy Increased connective tissue Myofibrillar disorganisation Z-line streaming Inverted-collagen-VI sign Atrophy…
Muscle biopsy
- Minicores
- Eccentric cores
- Centrally located nuclei
- Fibre type disproportion
- Selective type 1 fibre hypertrophy
- Increased connective tissue
- Myofibrillar disorganisation
- Z-line streaming
- Inverted-collagen-VI sign
- Atrophy
- Fatty infiltration
Muscle MRI
Other investigations
Treatment
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.
- Dabaj I, Carlier RY, Gómez-Andrés D, et al. Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement. Muscle Nerve 2018; 58:224-234.
- 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.
