Sarcoid myopathy and mitochondrial respiratory chain defects: clinicopathological, biochemical and molecular biological analyses
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- 作者：Reichmann ; Heinz ; Schalke ; Berthold ; Seibel ; Peter ; Naumann ; Markus ; Toyka ; Klaus
- 关键词：SDH deficiency ; sarcoid myopathy ; mitochondrial genome
- 刊名：Neuromuscular Disorders
- 出版年：1995
- 出版时间：July, 1995
- 年：1995
- 卷：5
- 期：4
- 页码：277-283
- 全文大小：896 K
文摘
We report on a 33-yr-old female patient with myalgia, CK values up to 3500 Ul−1 and proximal weakness. An initial muscle biopsy showed myositis. One year later an enlarged lymph node was investigated and sarcoidosis diagnosed. In a second muscle biopsy inflammatory cells and morphological characteristics of mitochondrial myopathy were found. Biochemical analyses indicated a 50 % reduction in complex II activity of the respiratory chain. Due to failure in clinical improvement a third muscle biopsy was performed in 1990 where only 19 % of normal complex II activity was present. Southern blot analysis of the mitochondrial genome was normal. Thus for the first time we describe a patient with sarcoid myopathy and a complex II deficiency. Our interpretation is that a pre-existing complex II defect became clinically relevant because of additional sarcoid myopathy.