Yonsei Medical Journal  1991;32(2):184-189

doi:10.3349/ymj.1991.32.2.184

Two cases of mitochondrial myopathy with predominant respiratory dysfunction.

Gyung Whan KIM 1 ; Seung Min KIM ; Il Nam SUNWOO ; Je G CHI

Affiliations

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Keywords

Mitochondrial myopathy; respiratory dysfunction

Country

Republic of Korea

Language

English

Abstract

Although it is well known that the respiratory failure is a major cause of death in most patients with chronic neuromuscular disease, predominant respiratory dysfunction without severe involvement of limb muscles is an unusual complication of mitochondrial myopathy in adult age. We experienced two cases of mitochondrial myopathy with severe involvement of respiratory function and only mild involvement of limb muscles. One is a 16 year old female and another is a 22 year old male. The diagnosis is based on morphologic characteristics of "ragged red fibers" under the light microscope and abnormal mitochondrias on the electron microscope in the muscle biopsy.