Miyoshi distal myopathy

Evidence-based neurology checklist on miyoshi distal myopathy: Pathology This is a dysferlinopathy Genetic mutations Onset features Neurological features Spared muscles Systemic features Muscle biopsy: features Other investigations

Pathology

  • This is a dysferlinopathy

Genetic mutations

Onset features

Neurological features

Spared muscles

Systemic features

Muscle biopsy: features

Other investigations

References

  1. Mastaglia FL, Laing NG. Distal myopathies: clinical and molecular diagnosis and clarification. JNNP 1999; 67:703-709.
  2. Bertorini TE. Neuromuscular Case Studies. Butterworth Heinemann Philadelphia 2008 p486.
  3. Nalini A, Gayathri N. Dysferlinopathy: a clinical and histopathological study of 28 patients from India. Neurol India 2008; 56:379-385. 
  4. 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.
  5. Shyma MM, Roopchand PS, Ram KM, Shaji CV. Calf heads on a trophy sign: Miyoshi myopathy. J Neurosci Rural Pract 2015; 6:428-430.
  6. And 3 more. Subscribe to see the full list

Related checklists

Loading...