A 57-year-old woman first noticed difficulty in walking at the age of 34 years, and since then muscle wasting and weakness in the lower limbs and proximal portion of the upper limbs had progressed slowly. Serum CK was elevated. Immunohistochemical study of the biceps brachii muscle showed deficiency of dysferlin in sarcolemma, and the dysferlin gene analysis disclosed 3370 G→T missense mutation. These findings led us to diagnose her as LGMD2B. Moreover echocardiogram revealed ventricular enlargement and diffuse hypokinesia suggesting secondary cardiomyopathy atributable to muscular dystrophy. Careful cardiac monitoring should be carried out in dysferlinopathy patients.
|Number of pages
|Published - 2004 Jun
- Gene mutation
- Limb girdle muscular dystrophy type 2B