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. 2012 Oct;20(10).
doi: 10.1038/ejhg.2012.91. Epub 2012 May 23.

Clinical utility gene card for: Centronuclear and myotubular myopathies

Valérie Biancalana  1 , Alan H Beggs, Soma Das, Heinz Jungbluth, Wolfram Kress, Ichizo Nishino, Kathryn North, Norma B Romero, Jocelyn Laporte
Affiliations

Clinical utility gene card for: Centronuclear and myotubular myopathies

Valérie Biancalana et al. Eur J Hum Genet. 2012 Oct.
No abstract available

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References

    1. Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis. 2008;3:26. - PMC - PubMed
    1. Kerst B, Mennerich D, Schuelke M, et al. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. Neuromuscul Disord. 2000;10:572–577. - PubMed
    1. Wilmshurst JM, Lillis S, Zhou H, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010;68:717–726. - PubMed
    1. Bevilacqua JA, Monnier N, Bitoun M, et al. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol. 2011;37:271–284. - PubMed
    1. Tosch V, Rohde HM, Tronchere H, et al. A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet. 2006;15:3098–3106. - PubMed

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