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Related Experiment Videos

Myopathies with abnormal mitochondria: a clinicopathologic classification.

Z Kamieniecka, H Schmalbruch

    Muscle & Nerve
    |September 1, 1978
    PubMed
    Summary

    Mitochondrial myopathy, characterized by "ragged red" fibers in muscle biopsies, affects patients with ocular myopathy and other conditions. Diagnosis often requires advanced analysis beyond routine histology.

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    Area of Science:

    • Neurology
    • Mitochondrial Diseases
    • Muscle Biology

    Background:

    • Mitochondrial myopathies are a group of neuromuscular disorders characterized by defects in mitochondrial function.
    • Abnormalities in muscle mitochondria can lead to various clinical presentations, including ocular myopathy and ophthalmoplegia-plus syndrome.
    • Routine muscle histology may not always reveal significant changes in mitochondrial myopathies.

    Purpose of the Study:

    • To investigate the prevalence and histological features of mitochondrial abnormalities in patients with myopathy.
    • To correlate specific clinical syndromes with the presence and percentage of "ragged red" fibers in muscle biopsies.
    • To assess the utility of routine histology, electromyography, and serum creatine kinase levels in diagnosing mitochondrial myopathy.

    Main Methods:

    • Analysis of muscle biopsies from 185 patients with myopathy.
    • Histopathological examination, including identification and quantification of "ragged red" fibers.
    • Clinical assessment of patients, including ocular and facial muscle involvement.
    • Electromyography (EMG) and serum creatine kinase (CK) level measurements.

    Main Results:

    • Twenty-two out of 185 patients (11.9%) exhibited abnormal muscle mitochondria.
    • Twelve patients with ocular myopathy or ophthalmoplegia-plus syndrome showed 5%-25% "ragged red" fibers.
    • Four patients with facioscapulohumeral weakness had fewer "ragged red" fibers (3%-8%).
    • Routine histology appeared nearly normal in these groups; EMG suggested myogenic lesions in 21/22 patients, and elevated serum CK was noted in 10.
    • Six clinically heterogeneous patients without ptosis or ophthalmoplegia had variable muscle involvement, with three showing severe changes potentially due to nonspecific mitochondrial alterations.

    Conclusions:

    • Mitochondrial myopathy, indicated by "ragged red" fibers, is present in a subset of myopathy patients, particularly those with ocular involvement.
    • "Ragged red" fibers can be present even when routine muscle histology appears normal.
    • Electromyography and creatine kinase levels can provide supportive evidence for a myogenic process in suspected mitochondrial myopathy.

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