Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a survival patient with hemorrhage in the quadrigeminal plate and discuss the literature of midbrain hemorrhage. A 13-year-old boy developed severe headache and vertigo on April 1st, 1983. On admission, he was comatose and tetraplegic with bilateral facial palsy and total ophthalmoplegia. CT scan revealed a hemorrhage in the midbrain and ambient cistern, but vertebral angiogram no abnormal vessels. Seven hours after admission, continuous ventricular drainage was performed. Disturbance of consciousness, ophthalmoplegia and speech disturbance were gradually improved. CT scan with contrast medium 3 weeks after admission showed a small high density spot in the right quadrigeminal plate. It might be suggested that this spot was the bleeding point and was probably a cryptic microvascular malformation. At the discharge only a minimal limitation of eye ball movement was left.
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PMID:[Hemorrhage in the quadrigeminal plate--a case report]. 332 Aug 3

The ryanodine receptor (RYR1) is an essential component of the calcium homeostasis of the skeletal muscle in mammals. Inactivation of the RYR1 gene in mice is lethal at birth. In humans only missense and in-frame mutations in the RYR1 gene have been associated so far with various muscle disorders including malignant hyperthermia, central core disease and the moderate form of multi-minicore disease (MmD). We identified a cryptic splicing mutation in the RYR1 gene that resulted in a 90% decrease of the normal RYR1 transcript in skeletal muscle. The 14646+2.99 kb A-->G mutation was associated with the classical form of MmD with ophthalmoplegia, whose genetic basis was previously unknown. The mutation present at a homozygous level was responsible for a massive depletion of the RYR1 protein in skeletal muscle. The mutation was not expressed in lymphoblastoid cells, pointing toward a tissue specific splicing mechanism. This first report of an out-of-frame mutation that affects the amount of RYR1 raised the question of the amount of RYR1 needed for skeletal muscle function in humans.
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PMID:A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. 1271 81