Centronuclear Myopathy a casereport

Authors

Horng-Jeng Shyn
Chue-Fun Chen

Translated Title

中央核肌病變：病例報告

Abstract

Centronuclear myopathy is a rare disease. A 12-year-old boy was first described by Spiro in 1966. In 1968, Bethlem described an adutt case.This case was a 42-year-old female patient. She sufferred from muscle weakness over all limbs for more than 10 years gradually. She got pregnancy for seven times including five males & two females. Only one boy & one girl were survived. Other babies died within one month. She was admitted due to an accidental failing in Nov., 1985. She received an examination of EMG and muscle biopsy. The histological changes observed in biopsies was striking resemblance to the myotubular stage of fetal muscle. Her son (aged 16 years) also received muscle biopsy. The result was normal. The pathogensis of this case could be autosonial chromosonc defect, while the exact mode of inheritance was difficult to determine.

Language

Traditional Chinese

First Page

67

Last Page

69

Recommended Citation

Shyn, Horng-Jeng and Chen, Chue-Fun (1986) "Centronuclear Myopathy a casereport," Rehabilitation Practice and Science: Vol. 14: Iss. 1, Article 9.
DOI: https://doi.org/10.6315/3005-3846.1699
Available at: https://rps.researchcommons.org/journal/vol14/iss1/9