| LIMM | lethal infantile mitochondrial myopathy |
|---|---|
| HCM | Hypertrophic Cardio-Myopathy = HCMP |
| MTM | Thayer-Martin, modified [agar]; myotubular myopathy |
| MTMX | myotubular myopathy, X-linked |
| XLMTM | X-linked myotubular myopathy |
| CNM | Centronuclear myopathy |
|---|---|
| MM | Miyoshi myopathy |
| MTM1 | Myotubular myopathy |
| PROMM | Proximal myotonic myopathy |
| IIM | idiopathic inflammatory myopathy |
| carcinomatous myopathy | <syndrome> A condition characterised by muscle weakness that is similar to the symptoms of myasthenia gravis. For this reason, it has been referred to as myasthenic syndrome. This disorder is caused by an insufficient release of neurotransmitter (acetylcholine) by the nerve cells. Unlike myasthenia gravis, as muscle contractions are continued, strength will increase. The cause of Lambert-Eaton syndrome is unknown, but is usually associated with small cell carcinoma of the lung or an autoimmune illness. (27 Sep 1997) |
|---|---|
| centronuclear myopathy | Slowly progressive generalised muscle weakness and atrophy beginning in childhood; on biopsy of skeletal muscle, the nuclei of most muscle fibres are seen to be located near the centre of a small fibre (the normal position for a 10-week embryo) rather than at the periphery of the fibre; familial incidence. Autosomal dominant recessive and X-linked [310400] forms occur. Synonym: myotubular myopathy. Distal myopathy, myopathy affecting predominantly the distal portions of the limbs; onset is usually after age 40, with weakness and wasting of small muscles of the hands; The infantile form and the Swedish later-onset are autosomal dominant and there is a Japanese late-onset type that is recessive. Minicore-multicore myopathy, an uncommon nonprogressive myopathy with early onset, proximal weakness, and hypotonia. Muscle fibres show focal defects of oxidative and myofibrillar adenosine triphosphatase enzymes with disorganization of myofibril ultrastructure. Mitochondrial myopathy, weakness and hypotonia of muscles, primarily those of the neck, shoulder, and pelvic girdles, with onset in infancy or childhood; on biopsy, giant, bizarre mitochondria are seen located between muscle fibrils just beneath the sarcolemma. The dominant form is due to deletion of mitochondrial DNA and the recessive form is due to a complex deficiency. (05 Mar 2000) |
| rod myopathy | A congenital myofibrillar abnormality in which small threadlike or rod-shaped bodies are scattered through the muscle fibres. It is marked by hypotonia and proximal muscle weakness. It is also called rod myopathy with reference to the threadlike (greek nema, thread) rods or myofibrils (latin fibrilla, a little fibre or threadlike structure). (12 Dec 1998) |
| myopathy | <neurology> Any disease of a muscle. Origin: Gr. Pathos = disease (18 Nov 1997) |
| myotubular myopathy | Slowly progressive generalised muscle weakness and atrophy beginning in childhood; on biopsy of skeletal muscle, the nuclei of most muscle fibres are seen to be located near the centre of a small fibre (the normal position for a 10-week embryo) rather than at the periphery of the fibre; familial incidence. Autosomal dominant recessive and X-linked [310400] forms occur. Synonym: myotubular myopathy. Distal myopathy, myopathy affecting predominantly the distal portions of the limbs; onset is usually after age 40, with weakness and wasting of small muscles of the hands; The infantile form and the Swedish later-onset are autosomal dominant and there is a Japanese late-onset type that is recessive. Minicore-multicore myopathy, an uncommon nonprogressive myopathy with early onset, proximal weakness, and hypotonia. Muscle fibres show focal defects of oxidative and myofibrillar adenosine triphosphatase enzymes with disorganization of myofibril ultrastructure. Mitochondrial myopathy, weakness and hypotonia of muscles, primarily those of the neck, shoulder, and pelvic girdles, with onset in infancy or childhood; on biopsy, giant, bizarre mitochondria are seen located between muscle fibrils just beneath the sarcolemma. The dominant form is due to deletion of mitochondrial DNA and the recessive form is due to a complex deficiency. (05 Mar 2000) |
| nemaline myopathy | A congenital myofibrillar abnormality in which small threadlike or rod-shaped bodies are scattered through the muscle fibres. It is marked by hypotonia and proximal muscle weakness. It is also called rod myopathy with reference to the threadlike (greek nema, thread) rods or myofibrils (latin fibrilla, a little fibre or threadlike structure). (12 Dec 1998) |
| ocular myopathy | A specific type of slowly worsening weakness of the ocular muscles, usually associated with a pigmentary retinopathy. See: Kearns-Sayre syndrome, oculopharyngeal dystrophy. Synonym: ocular myopathy. (05 Mar 2000) |
| thyrotoxic myopathy | Extreme muscular weakness in severe thyrotoxicosis affecting muscles of limbs and trunk as well as those used in speech and swallowing. (05 Mar 2000) |
| anti-mitochondrial antibodies | A special serologic test that measures the level of antibodies to a particular portion of a cell (mitochondria). (27 Sep 1997) |
| bovine mitochondrial endonuclease | <enzyme> Dimer of 29kda peptide; prefers a conserved sequence in the displacement loop region of mitochondrial DNA; nicks double-stranded DNA and fragments single-stranded DNA Registry number: EC 3.1.21.- (26 Jun 1999) |
| genome, mitochondrial | The genetic information contained in the circular chromosome of the mitochondrion, a structure located outside the nucleus in the cytoplasm of the cell. The mitochondrial genome and the chromosomal (nuclear) genome together constitute the entire genome. (12 Dec 1998) |
| mitochondrial | Referring to mitochondria. (12 Dec 1998) |
| mitochondrial chromosome | The DNA component of mitochondria, the chief function of which is synthesis of adenosine triphosphate and the management of cellular energy; the chromosome contains some 16,000 base pairs arranged in a circle. The inheritance is matrilineal, and the mutation rate is unusually high; since each cell contains thousands of copies a mutant form may assume an almost continuous gradation as in a galtonian process. Most of the mutations known have their impact on the respiratory chain. (05 Mar 2000) |
| mitochondrial disease | <disease, neurology> An illnesse, frequently neurological, which can be ascribed to defects in mitochondrial function. If the defect is in the mitochondrial rather than the nuclear genome unusual patterns of inheritance can be observed. (18 Nov 1997) |
| mitochondrial encephalomyopathies | Brain diseases associated with disease of the muscles, accompanied by morphological changes in the muscle mitochondria and their metabolism. The mitochondrial encephalopathies are often multisystemic and vary considerably in age at onset, distribution of weakness, severity, and course. Mitochondrial cytochrome c oxidase deficiency appears to be implicated and often several mitochondrial enzymes are affected in the same patient. The brain lesions can be said to be clinical and morphological expressions of a mitochondrial defect. (12 Dec 1998) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|