Abstract
Two girls and their mother with multicore myopathy are described. The cores consisted of Z band disorganisation and decreased or absent enzyme activity. Only one case has clinical signs of myopathy. Muscle enzyme activity was elevated in the two children. The mode of inheritance was autosomal dominant.
Full text
PDF





Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bethlem J., Arts W. F., Dingemans K. P. Common origin of rods, cores, miniature cores, and focal loss of cross-striations. Arch Neurol. 1978 Sep;35(9):555–566. doi: 10.1001/archneur.1978.00500330003002. [DOI] [PubMed] [Google Scholar]
- Bonnette H., Roelofs R., Olson W. H. Multicore disease: report of a case with onset in middle age. Neurology. 1974 Nov;24(11):1039–1044. doi: 10.1212/wnl.24.11.1039. [DOI] [PubMed] [Google Scholar]
- Engel A. G., Gomez M. R., Groover R. V. Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. Mayo Clin Proc. 1971 Oct;46(10):666–681. [PubMed] [Google Scholar]
- Engel W. K. Muscle biopsies in neuromuscular diseases. Pediatr Clin North Am. 1967 Nov;14(4):963–995. doi: 10.1016/s0031-3955(16)32067-3. [DOI] [PubMed] [Google Scholar]
- Harrison G. G. Control of the malignant hyperpyrexic syndrome in MHS swine by dantrolene sodium. Br J Anaesth. 1975 Jan;47(1):62–65. doi: 10.1093/bja/47.1.62. [DOI] [PubMed] [Google Scholar]
- Heffner R., Cohen M., Duffner P., Daigler G. Multicore disease in twins. J Neurol Neurosurg Psychiatry. 1976 Jun;39(6):602–606. doi: 10.1136/jnnp.39.6.602. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Meltzer H. Y., Kuncl R. W., Yang V. Incidence of Z band streaming and myofibrillar disruptions in skeletal muscle from healthy young people. Neurology. 1976 Sep;26(9):853–857. doi: 10.1212/wnl.26.9.853. [DOI] [PubMed] [Google Scholar]
- van Wijngaarden G. K., Bethlem J., Dingemans K. P., Coërs C., Telerman-Toppet N., Gérard J. M. Familial focal loss of cross striations. J Neurol. 1977 Oct 7;216(3):163–172. doi: 10.1007/BF00313617. [DOI] [PubMed] [Google Scholar]






