Miyoshi distal myopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Miyoshi distal myopathy. This is a dysferlinopathy. Fully referenced neurology checklist.
Pathology
- This is a dysferlinopathy
Genetic mutations
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Onset features
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Neurological features
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Spared muscles
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Systemic features
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Muscle biopsy: features
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Other investigations
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References
- Mastaglia FL, Laing NG. Distal myopathies: clinical and molecular diagnosis and clarification. JNNP 1999; 67:703-709.
- Bertorini TE. Neuromuscular Case Studies. Butterworth Heinemann Philadelphia 2008 p486.
- Nalini A, Gayathri N. Dysferlinopathy: a clinical and histopathological study of 28 patients from India. Neurol India 2008; 56:379-385.
- Papadopoulos C, Laforêt P, Nectoux J, et al. HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients. Muscle Nerve 2017; 56:1096-1100.
- Shyma MM, Roopchand PS, Ram KM, Shaji CV. Calf heads on a trophy sign: Miyoshi myopathy. J Neurosci Rural Pract 2015; 6:428-430.
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