X-linked myotubular myopathy in a female infant ca... [Neurology. 2003] - PubMed

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Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. [Neuromuscul Disord. 2006]
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.
Hoffjan S, Thiels C, Vorgerd M, Neuen-Jacob E, Epplen JT, Kress W. Neuromuscul Disord. 2006 Nov; 16(11):749-53. Epub 2006 Sep 26.
Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy. [Dev Med Child Neurol. 2005]
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de Goede CG, Kelsey A, Kingston H, Tomlin PI, Hughes MI. Dev Med Child Neurol. 2005 Dec; 47(12):835-7.
Review [Myotubular myopathy. Case report and review of the literature]. [Orv Hetil. 2007]
Review [Myotubular myopathy. Case report and review of the literature].
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Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. [Neuromuscul Disord. 2003]
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.
Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Ørstavik KH, Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C, Muntoni F. Neuromuscul Disord. 2003 Jan; 13(1):55-9.
Review X-linked myotubular and centronuclear myopathies. [J Neuropathol Exp Neurol. 2005]
Review X-linked myotubular and centronuclear myopathies.
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. J Neuropathol Exp Neurol. 2005 Jul; 64(7):555-64.

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Cited by 2 PubMed Central articles

X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation. [Yonsei Med J. 2011]
X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation.
Jeon JH, Namgung R, Park MS, Park KI, Lee C, Lee JS, Kim SH. Yonsei Med J. 2011 May; 52(3):547-50.
Review Centronuclear (myotubular) myopathy. [Orphanet J Rare Dis. 2008]
Review Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J. Orphanet J Rare Dis. 2008 Sep 25; 3:26. Epub 2008 Sep 25.

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