| NEM | nemaline; N-ethylmaleimide; no evidence of malignancy |
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| IIM | Idiopathic inflammatory myopathies |
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| mitochondrial myopathies | Diseases of the muscles characterised by morphologic changes in mitochondria and often associated with excessive lipid accumulation. Muscle biopsies reveal "the presence of overly abundant and large mitochondria (often containing abnormal inclusions and cristae) in many muscle fibres. The terms mitochondrial and lipid storage have been used interchangeably to designate these myopathies, since the enzymes essential for intramuscular lipid metabolism are contained in the mitochondria, and a defect in the latter results in an abnormal accumulation of lipid bodies in muscle fibres." often defects in various oxidative enzymes figure. One type of mitochondrial myopathy is called pleoconial with reference to "a remarkably large number (pleo-) of enlarged mitochondria in the biopsied muscle", another is "called megaconial with reference to giant (mega-) mitochondria in the muscle." (adams and victor: principles of neurology, 2d ed, p980-1) (12 Dec 1998) |
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| nemaline | <chemical> Having the form of threads; fibrous. Origin: L. Nema thread, gr, fr. To spin. Source: Websters Dictionary (01 Mar 1998) |
| 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) |
Synonyms : Adult Onset Nemaline Myopathy, Autosomal Dominant Nemaline Myopathy, Autosomal Recessive Nemaline Myopathy, Childhood Onset Nemaline Myopathy, Late Onset Nemaline Myopathy, Nemaline Myopathy, Adult Onset, Nemaline Myopathy, Autosomal Dominant, Rod Myopathy
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