| muscle, central core disease of | One of the conditions that produces 'floppy baby' syndrome. Ccd causes hypotonia (inadequately toned muscles characterised by floppiness) in the newborn baby, slowly progressive muscle weakness, and muscle cramps after exercise. Muscle biopsy shows a key diagnostic finding (absent mitochondria in the centre of many type i muscle fibres). Ccd is inherited as a dominant trait. The ccd gene is on chromosome 19 (and involves ryanodine receptor-1). (12 Dec 1998) |
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| disease, central core, of muscle | <anatomy> One of the conditions that produces 'floppy baby' syndrome. CCD causes hypotonia (floppiness) in the newborn baby, slowly progressive muscle weakness, and muscle cramps after exercise. Muscle biopsy shows a key diagnostic finding (absent mitochondria in the centre of many type I muscle fibres). CCD is inherited as a dominant trait. The CCD gene is on chromosome 19 (and involves ryanodine receptor-1). (12 Dec 1998) |
| extra-ocular muscle disease | <radiology> Graves disease, pseudotumour, lymphoma, metastasis, infection, carotid-cavernous fistula, granulomatous disease (12 Dec 1998) |
| age-specific rate | A rate for a specified age group, in which the numerator and denominator refer to the same age group. (05 Mar 2000) |
| Bensley's specific granules | Granule's in the cells of the islands of Langerhans in the pancreas. (05 Mar 2000) |
| brain-specific kinase | <enzyme> Expressed specifically in brain; member of the eph/elk receptor-like kinase family; mw 105 kD; may represent murine homolog of chicken cek7 receptor-like kinase; amino acid sequence given in first source Registry number: EC 2.7.1.- Synonym: bsk tyrosine kinase (26 Jun 1999) |
| galactosyl-1-3-N-acetylgalactosaminyl-specific 2,6-sialyltransferase | <enzyme> Genbank x77775 Registry number: EC 2.4.99.- Synonym: galbeta1,3galnac 2,6-sialyltransferase, st6galnac II (26 Jun 1999) |
| glycoprotein hormone-specific N-acetylgalactosamine transferase | <enzyme> Transfers galnac to the terminal glcnac moieties of glcnac2man3glcnac2asn Registry number: EC 2.4.1.- Synonym: ghs-acgalnh2 transferase, glycoprotein hormone galnac transferase, glycoprotein hormone - n-acetylgalactosaminyltransferase (26 Jun 1999) |
| retina-specific amine oxidase | <enzyme> Genbank d88213 Registry number: EC 1.4.- Synonym: rao enzyme, human (26 Jun 1999) |
| Gomori's non-specific acid phosphatase stain | <technique> A method in which formalin-fixed frozen sections are incubated in a substrate containing sodium beta-glycerophosphate and lead nitrate at pH 5.0; the insoluble lead phosphate produced is treated with ammonium sulfide to give a black lead sulfide. (05 Mar 2000) |
| Gomori's non-specific alkaline phosphatase stain | <technique> A calcium-cobalt sulfide method using frozen sections or cold acetone-or formalin-fixed paraffin sections, plus sodium beta-glycerophosphate as a substrate at pH 9.0 to 9.5 with Mg++ as activator; calcium ions precipitate the liberated phosphate, cobalt salt replaces the calcium phosphate, and ammonium sulfide converts the product to a black cobalt sulfide. (05 Mar 2000) |
| group-specific protease | <enzyme> A serine protease, obtained from rat small intestine, which preferentially inactivates the apo forms of certain pyridoxal phosphate requiring enzymes Registry number: EC 3.4.21.- (26 Jun 1999) |
| RNA, transfer, amino acid-specific | A group of transfer rnas which are specific for carrying each one of the 20 amino acids to the ribosome in preparation for protein synthesis. (12 Dec 1998) |
| poly A specific exoribonuclease | <enzyme> Acts on 2' or 3'-linked oligoriboadenylates to liberate 5'-AMP Registry number: EC 3.1.13.- Synonym: 2',3'-exoribonuclease, 3'-exoribonuclease (26 Jun 1999) |
| poly(A)-specific ribonuclease | <enzyme> From vigna unguiculata seedlings; bifunctional enzyme responsible for both poly(a)-polymerizing and poly(a)-hydrolyzing activities; removes the poly(a) tail as the first step in degrading mRNA Registry number: EC 3.1.13.4 Synonym: poly(a) nuclease, mRNA poly(a) nuclease, poly(a) ribonuclease (pan), pan2 protein (26 Jun 1999) |