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.
- Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.