Myopathies, Nemaline
| Definition: |
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) |
| Also Called: |
Adult Onset Nemaline Myopathy,Nemaline Myopathy, Autosomal Dominant,Nemaline Myopathy, Autosomal Recessive,Nemaline Myopathy, Childhood Onset,Nemaline Myopathy, Late Onset |
| Previously Indexed: |
Muscle Hypotonia (1967-1993),Muscular Diseases (1966-1993),Neuromuscular Diseases (1971-1993) |
Myopathies, Nemaline Definitions and Terms
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