Mosaicism for dominant collagen VI mutations as a cause for intra-familial phenotypic variability

Collagen VI-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy (UCMD), intermediate phenotypes, to the milder Bethlem myopathy (BM). Both inter- and intra-familial variable expressivity...

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發表在:Hum Mutat
Main Authors: Donkervoort, Sandra, Hu, Ying, Stojkovic, Tanya, Voermans, Nicol, Foley, A. Reghan, Leach, Meganne E, Dastgir, Jahannaz, Bolduc, Veronique, Cullup, Thomas, de Becdelièvre, Alix, Yang, Lin, Su, Hai, Meilleur, Katherine, Schindler, Alice B., Kamsteeg, Erik-Jan, Richard, Pascale, Butterfield, Russell, Winder, Thomas L., Crawford, Thomas, Weiss, Robert B., Muntoni, Francesco, Allamand, Valérie, Bönnemann, Carsten G.
格式: Artigo
語言:Inglês
出版: 2015
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4601573/
https://ncbi.nlm.nih.gov/pubmed/25204870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22691
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