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Myopathies, Nemaline
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historyNote*: | 2000(1994)
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publicMeSHNote*: | 2000; see NEMALINE MYOPATHY 1994-1999
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Scope note: | 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)
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activeMeSHYear*: | |
dateCreated*: | 1999-11-08X |
dateEstablished*: | 1994-01-01X |
dateRevised*: | 2000-06-21X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | sjnX |
recordOriginator*: | TGCX |
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Labels and equivalent concepts: | Nemaliinimyopatiat (fi) XNemaliinimyopatia (fi, replaced) Myopatier, nemalin (sv) Nemalinmyopatier (sv, replaced) Rod Myopathy (en, replaced) Nemaline Myopathy, Adult Onset (en, replaced) Rod-Body Myopathy (en, replaced) Nemaline Myopathies (en, replaced) Myopathy, Rod-Body (en, replaced) Childhood Onset Nemaline Myopathy (en, replaced) Autosomal Recessive Nemaline Myopathy (en, replaced) Late Onset Nemaline Myopathy (en, replaced) Myopathy, Nemaline (en, replaced) Myopathy, Rod (en, replaced) Autosomal Dominant Nemaline Myopathy (en, replaced) |
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