Myopathies, Nemaline
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)
Year introduced: 2000(1994)
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Subheadings:
Tree Number(s): C05.651.575.290, C10.668.491.550.290
MeSH Unique ID: D017696
Entry Terms:
- Myopathy, Rod
- Myopathy, Rod-Body
- Myopathy, Rod Body
- Nemaline Body Disease
- Nemaline Myopathies
- Myopathy, Nemaline
- Nemaline Rod Disease
- Rod Body Disease
- Rod Myopathy
- Myopathies, Rod
- Rod Myopathies
- Rod-Body Myopathy
- Myopathies, Rod-Body
- Rod-Body Myopathies
- Rod Body Myopathy
- Nemaline Myopathy
- Nemaline Myopathy, Childhood Onset
- Childhood Onset Nemaline Myopathy
- Nemaline Myopathy, Late Onset
- Late Onset Nemaline Myopathy
- Nemaline Myopathy, Autosomal Dominant
- Autosomal Dominant Nemaline Myopathy
- Nemaline Myopathy, Autosomal Recessive
- Autosomal Recessive Nemaline Myopathy
- Adult Onset Nemaline Myopathy
- Nemaline Myopathy, Adult Onset
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