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| CCD | calibration curve data; central core disease; charge-coupled device; childhood celiac disease; cleid... |
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| HCM | Hypertrophic Cardio-Myopathy = HCMP |
| LIMM | lethal infantile mitochondrial myopathy |
| MTM | Thayer-Martin, modified [agar]; myotubular myopathy |
| MTMX | myotubular myopathy, X-linked |
| CCD | Central Core Disease |
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| CNM | Centronuclear myopathy |
| MM | Miyoshi myopathy |
| MTM1 | Myotubular myopathy |
| PROMM | Proximal myotonic myopathy |
| central core disease | A congenital myopathy characterised by hypotonia, delay of motor development in infancy, and nonprogressive or slowly progressive muscle weakness; on biopsy the central core of muscle fibres stains abnormally, myofibrils are abnormally compact, and there is virtual absence of mitochondria and sarcoplasmic reticulum; histochemically, the cores are devoid of oxidative enzyme, phosphorylase, and ATPase activity; autosomal dominant inheritance, often subclinical. (05 Mar 2000) |
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| central core disease of muscle | <neurology> One of the conditions that produces floppy baby syndrome. It 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). The disease is inherited as a dominant trait. The CCD gene is on chromosome 19 (and involves ryanodine receptor-1). Inheritance: autosomal dominant. (12 Dec 1998) |
| central transactional core | The reticular activating system of the brain. (05 Mar 2000) |
| 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) |
| 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) |
| 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) |
| atomic core | The nucleus plus the nonvalence electrons. (05 Mar 2000) |
| viral core proteins | Proteins found mainly in icosahedral DNA and RNA viruses. They consist of proteins directly associated with the nucleic acid inside the nucleocapsid. (12 Dec 1998) |
Synonyms : Central Core Disease, Central Core Diseases, Central Core Myopathies, Myopathies, Central Core, Shy Magee Syndrome, Syndrome, Shy-Magee
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