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Intranuclear rod myopathy
Did you mean "intra nuclear" rod myopathy?
- Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy ...
- ... ACTA1 gene have been identified in people with intranuclear rod myopathy. These variants change single amino acids in the ... actin protein sequence.ACTA1 gene variants that cause intranuclear rod myopathy result in rod-shaped accumulations of actin in ...
- ... PubMed Schroder JM, Durling H, Laing N. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Acta ...