Myopathies, Nemaline |
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| 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 | |
| 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) | |