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Congenital fiber-type disproportion myopathy

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Congenital fiber-type disproportion myopathy - a rare genetic disorder caused by mutations in the tpm3, acta1, ryr1 and sepn1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an x-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Congenital fiber-type disproportion myopathy for any updates.

 

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