- HOME
- Vol.44 No.6
- CLINICA NEUROL, 44: 375－378, 2004
- Vol.44 No.6 contents
Brief Clinical Note
A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy
Satoshi Kuru, M.D.1), Fumihiko Yasuma, M.D.2), Tadashi Wakayama, M.D.1) 6), Seigo Kimura, M.D.1) 6), Masaaki Konagaya, M.D.1), Masashi Aoki, M.D.3), Masaki Tanabe, M.D.4) and Toshiaki Takahashi5)
1)Department of Neurology, Suzuka National Hospital
2)Department of Medicine, Suzuka National Hospital
3)Department of Neurology, Tohoku University School of Medicine
4)First Department of Internal Medicine, Mie University School of Medicine
5)Department of Neurology, Nishitaga National Hospital
6)Department of Neurology, Nagoya University School of Medicine
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.
(CLINICA NEUROL, 44: 375－378, 2004)
key words: limb girdle muscular dystrophy type 2B, cardiomyopathy, dysferlin, immunohistochemistry, gene mutation
(Received: 18-Sep-03)
