Myotubular Myopathy in a Girl with a Deletion at Xq27-q28 and Unbalanced X Inactivation Assigns the MTMI Gene to a 600-kb Region

A young girl with a clinically moderate form of myotubular myopathy was found to carry a cytogenetically detectable deletion in Xq27-q28. The deletion had occurred de novo on the paternal X chromosome. It encompasses the fragile X (FRAXA) and Hunter syndrome (IDS) loci, and the DXS304 and DXS455 mar...

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Hauptverfasser: Dahl, N., Hu, L. J., Chery, M., Fardeau, M., Gilgenkrantz, S., Nivelon-Chevallier, A., Sidaner-Noisette, I., Mugneret, F., Gouyon, J. B., Gal, A., Kioschis, P., d'Urso, M., Mandel, J.-L.
Format: Artikel
Sprache:English
Veröffentlicht: 1995
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801465/
https://ncbi.nlm.nih.gov/pubmed/7726166
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https://ncbi.nlm.nih.gov/pmc/articles/PMC1801465/
https://ncbi.nlm.nih.gov/pubmed/7726166

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