Article
Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.
Neurology India - 1 Jan 2000
Padmanabha Hansashree, Arunachal Gautham, Kishore Pratik, Sharma P Praveen, Mailankody Pooja, Mahale Rohan R, Nashi Saraswati, Mathuranath P S, Chandra Sadanandavalli R
Abstract excerpt
Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were...
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