Summary
Report of a case with congenital symmetrical slowly progressive neuromuscular disease. EMG shows signs of neurogenic atrophy together with a predominant myopathic pattern. Muscle biopsy reveals the characteristics of so-called centronuclear myopathy in combination with “myotube-like structures”. Myometric studies show preferential atrophy of type-I-fibres. Biopsy of the sural nerve indicates involvement of the peripheral nerve. The question whether this disease is essentially neurogenic or myopathic, is discussed. Neurogenic origin is given preference.
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Herrn Professor Dr. Dr. G. Bodechtel in Verehrung zum 75. Geburtstag gewidmet.
Die Arbeit wurde mit Unterstützung der Friedrich Baur-Stiftung, München, durchgeführt.
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Pongratz, D., Heuser, M., Mittelbach, F. et al. Die sogenannte congenitale centronucleäre Myopathie —eine primäre Neuropathie?. Acta Neuropathol 32, 9–19 (1975). https://doi.org/10.1007/BF00686063
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DOI: https://doi.org/10.1007/BF00686063