Dominantly inherited cytoplasmic body myopathy in a Japanese kindred.

Koji Abe, K. Kobayashi, K. Chida, N. Kimura, K. Kogure

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

An autosomal dominant progressive myopathy with diffuse cytoplasmic bodies (CBs) is described. In four successive generations, 12 patients suffered from weakness and atrophy of muscles in the distal extremities, neck, thorax and shoulder girdles. The mean age at onset was 42 years old, and the patients became disabled after 5 to 10 years due to chronic respiratory failure. The level of serum creatine kinase was normal or slightly elevated. An electromyogram showed a predominant myopathic change with a slight neurogenic change. Autopsy of 2 cases revealed numerous CBs in the skeletal muscles. Smooth and cardiac muscles were also affected. CBs were present predominantly in type I fibers in skeletal muscles. Males were more frequently affected than females (2:1). An electron microscopic examination showed dense central cores of myofilaments surrounded by radiating filaments. Characteristics of clinical course and histopathological findings in a new kindred are discussed in this rare disease.

Original languageEnglish
Pages (from-to)261-272
Number of pages12
JournalTohoku Journal of Experimental Medicine
Volume170
Issue number4
Publication statusPublished - Aug 1993
Externally publishedYes

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Muscular Diseases
Muscle
Muscular Atrophy
Myofibrils
Skeletal Muscle Fibers
Muscle Weakness
Electromyography
Creatine Kinase
Rare Diseases
Age of Onset
Respiratory Insufficiency
Smooth Muscle
Autopsy
Myocardium
Skeletal Muscle
Neck
Thorax
Extremities
Electrons
Serum

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Abe, K., Kobayashi, K., Chida, K., Kimura, N., & Kogure, K. (1993). Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. Tohoku Journal of Experimental Medicine, 170(4), 261-272.

Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. / Abe, Koji; Kobayashi, K.; Chida, K.; Kimura, N.; Kogure, K.

In: Tohoku Journal of Experimental Medicine, Vol. 170, No. 4, 08.1993, p. 261-272.

Research output: Contribution to journalArticle

Abe, K, Kobayashi, K, Chida, K, Kimura, N & Kogure, K 1993, 'Dominantly inherited cytoplasmic body myopathy in a Japanese kindred.', Tohoku Journal of Experimental Medicine, vol. 170, no. 4, pp. 261-272.
Abe, Koji ; Kobayashi, K. ; Chida, K. ; Kimura, N. ; Kogure, K. / Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. In: Tohoku Journal of Experimental Medicine. 1993 ; Vol. 170, No. 4. pp. 261-272.
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