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  • mitochondrial myopathies
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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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  • Myopathies, Nemaline - »õâ A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
    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
  • Myopathies, Structural, Congenital - »õâ A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
    Synonyms : Congenital Non-Progressive Myopathies, Congenital Structural Myopathies, Non-Progressive Myopathies, Congenital, Structural Myopathies, Congenital, Aggregate Myopathies, Tubular, Aggregate Myopathy, Tubular, Centronuclear Myopathies, Myopathies, Centronuclear
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