Muscular Dystrophies, Limb-Girdle

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  Subject Areas on Research

  • Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section. 
  • Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques. 
  • Diagnostic criteria for late-onset (childhood and adult) Pompe disease. 
  • Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. 
  • Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered. 
  • Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. 
  • Myotilin overexpression enhances myopathology in the LGMD1A mouse model. 
  • The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies. 
  • Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.