Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four unrelated patients are reported with muscle hypotonia, weakness, skeletal dysmorphism and respiratory insufficiency since childhood. Muscle tissues were found to contain a number of muscle fibres with abnormal structure. Peripherally located structures such as a cap lacking in ATP-ase and fast myosin activity, rich in desmin, tropomyosin and alpha-actinin consisted of abnormally arranged myofibrils. The position of the peripherally situated myofibrils, as well as their abnormal sarcomere pattern, seems to point to an error in fusion and muscle protein synthesis. Whether our cases of congenital myopathy with cap structures are of hereditary origin or of a sporadic type remains unknown, so far. It seems that the result of our study, as well as data presented in the literature, allows us to divede cap disease into two forms: fatal and nonfatal. The morphological changes in the muscle fibres are identical in all the presented cases but the number of muscle fibres with cap structures is much higher in the fatal form.
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PMID:"Cap disease"--a failure in the correct muscle fibre formation. 1216 90

Examination by light and electron microscopy of more than 100 muscle biopsies revealed one very unusual case. A 4-year-old boy with non-progressive muscle weakness and hypotonia was found to have small particles, termed "myogranules", in many muscle fibres from two gastrocnemius biopsies. Paraffin sections and thin sections of plastic-embedded muscle showed that the rod-shaped myogranules measured between 0.1 and 5 microns in length, and were usually orientated in the long axis of the fibre. Normal cross-striations could not be seen in areas occupied by myogranules, although adjacent parts of the same fibre were normal. Electron micrographs showed myofilaments running through the myogranules and a periodicity similar to sections of recrystallized muscle protein paramyosin. It is possible that this child has a disturbance of muscle proteins.
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PMID:LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS. 1407 66