Premium
Myopathies with abnormal mitochondria: A clinicopathologic classification
Author(s) -
Kamieniecka Zofia,
Schmalbruch Henning
Publication year - 1978
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880010513
Subject(s) - mitochondrial myopathy , myopathy , external ophthalmoplegia , medicine , pathology , creatine kinase , histology , muscle biopsy , lesion , ptosis , chronic progressive external ophthalmoplegia , electromyography , facioscapulohumeral muscular dystrophy , biopsy , anatomy , muscular dystrophy , mitochondrial dna , biology , surgery , biochemistry , psychiatry , gene
Of 185 patients with myopathy, 22 showed abnormal muscle mitochondria. In 12 of the 22 patients, all of whom had ocular myopathy or the ophthalmoplegia‐plus syndrome, muscle biopsies contained 5%–25% “ragged red” fibers. In 4 patients with a facioscapulohumeral distribution of weakness, ragged red fibers were less numerous (3%–8%). In both groups, routine histology showed almost normal muscle. The remaining 6 patients were clinically heterogeneous, all without ptosis or ophthalmoplegia. The biopsies of three of these patients showed severely affected muscle. It is possible that mitochondrial changes in these muscles were nonspecific. Electromyography indicated or suggested a myogenic lesion in 21 of the 22 patients; in 10, the serum creatine kinase was increased.