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DeCS
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Descriptor English:
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Myopathies, Nemaline
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Descriptor Spanish:
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Miopatías Nemalínicas
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Descriptor Portuguese:
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Miopatias da Nemalina
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Synonyms English:
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Adult Onset Nemaline Myopathy
Autosomal Dominant Nemaline Myopathy
Autosomal Recessive Nemaline Myopathy
Childhood Onset Nemaline Myopathy
Late Onset Nemaline Myopathy
Myopathies, Rod
Myopathies, Rod-Body
Myopathy, Nemaline
Myopathy, Rod
Myopathy, Rod Body
Myopathy, Rod-Body
Nemaline Body Disease
Nemaline Myopathies
Nemaline Myopathy
Nemaline Myopathy, Adult Onset
Nemaline Myopathy, Autosomal Dominant
Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Late Onset
Nemaline Rod Disease
Rod Body Disease
Rod Body Myopathy
Rod Myopathies
Rod Myopathy
Rod-Body Myopathies
Rod-Body Myopathy
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Tree Number:
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C05.651.575.290
C10.668.491.550.290
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Definition English:
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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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History Note English:
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2000(1994)
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Allowable Qualifiers English:
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Record Number:
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31278
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Unique Identifier:
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D017696
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Occurrence in VHL:
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Similar:
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DeCS
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