Diseases [C] » Musculoskeletal Diseases [C05] » Muscular Diseases » Myopathies, Structural, Congenital » Myopathies, Nemaline
Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Muscular Diseases » Myopathies, Structural, Congenital » Myopathies, Nemaline
Description
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) MeSH
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Phase 2 Indicated Drugs (1)
Other Experimental Indicated Drugs (1)
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