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Article

Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669

1 Jan 2013

Abstract excerpt

Down syndrome (DS), the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. Muscle hypotonia (MH) and congenital heart diseases (CHD) are also frequently observed. Collagen molecules are essential components for maintaining muscle integrity and are formed by the assembly of three chains, alpha 1-3. The type VI collagen is crucial for...

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PMID: 23626599
DOI: 10.3389/fgene.2013.00057

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