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Items: 1 to 20 of 123

1.

X-linked recessive myotubular myopathy with MTM1 mutations.

Han YM, Kwon KA, Lee YJ, Nam SO, Park KH, Byun SY, Kim GH, Yoo HW.

Korean J Pediatr. 2013 Mar;56(3):139-42. doi: 10.3345/kjp.2013.56.3.139. Epub 2013 Mar 18.

2.

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. doi: 10.3349/ymj.2011.52.3.547.

3.

Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations.

Lee EH, Yum MS, Park SJ, Lee BH, Kim GH, Yoo HW, Ko TS.

J Clin Neurol. 2013 Jan;9(1):57-60. doi: 10.3988/jcn.2013.9.1.57. Epub 2013 Jan 3.

4.

Centronuclear (myotubular) myopathy.

Jungbluth H, Wallgren-Pettersson C, Laporte J.

Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Review.

5.

Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy.

Gurgel-Giannetti J, Zanoteli E, de Castro Concentino EL, Abath Neto O, Pesquero JB, Reed UC, Vainzof M.

Neuromuscul Disord. 2012 Jun;22(6):541-5. doi: 10.1016/j.nmd.2011.12.005. Epub 2012 Jan 20.

PMID:
22264517
6.

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.

Trump N, Cullup T, Verheij JB, Manzur A, Muntoni F, Abbs S, Jungbluth H.

Neuromuscul Disord. 2012 May;22(5):384-8. doi: 10.1016/j.nmd.2011.11.004. Epub 2011 Dec 9.

PMID:
22153990
7.

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.

PMID:
12467733
8.

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.

PMID:
17005396
9.

[Myotubular myopathy].

Guiraud-Chaumeil C, Laporte J, Mandel JL, Warter JM.

Rev Neurol (Paris). 2000 Nov;156(11):960-4. Review. French.

PMID:
11119047
10.

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Shelton GD, Rider BE, Child G, Tzannes S, Guo LT, Moghadaszadeh B, Troiano EC, Haase B, Wade CM, Beggs AH.

Skelet Muscle. 2015 Jan 27;5(1):1. doi: 10.1186/s13395-014-0025-3. eCollection 2015.

11.

Identification of a mutation in the MTM1 gene, associated with X-linked myotubular myopathy, in a Greek family.

Fidani L, Karagianni P, Tsakalidis C, Mitsiako G, Hatziioannidis I, Biancalana V, Nikolaidis N.

Hippokratia. 2011 Jul;15(3):278-9.

12.

X-linked myotubular myopathy: report of a case with novel mutation.

Hortobágyi T, Szabó H, Kovács KS, Bódi I, Bereg E, Katona M, Biancalana V, Túri S, Sztriha L.

J Child Neurol. 2007 Apr;22(4):447-51.

PMID:
17621527
13.
14.

Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.

de Goede CG, Kelsey A, Kingston H, Tomlin PI, Hughes MI.

Dev Med Child Neurol. 2005 Dec;47(12):835-7.

15.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD.

Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3.

16.

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. Review.

17.

Mutation studies in X-linked myotubular myopathy in three Indian families.

Bijarnia S, Puri RD, Jain M, Kler N, Roy S, Urtizberea JA, Biancalana V, Verma IC.

Indian J Pediatr. 2010 Apr;77(4):431-3. doi: 10.1007/s12098-010-0057-6. Epub 2010 Mar 31.

PMID:
20358311
18.

MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.

Nishino I, Minami N, Kobayashi O, Ikezawa M, Goto Y, Arahata K, Nonaka I.

Neuromuscul Disord. 1998 Oct;8(7):453-8.

PMID:
9829274
19.

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E.

Hum Mol Genet. 1997 Sep;6(9):1505-11.

20.

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Shichiji M, Biancalana V, Fardeau M, Hogrel JY, Osawa M, Laporte J, Romero NB.

Brain Behav. 2013 Jul;3(4):476-86. doi: 10.1002/brb3.147. Epub 2013 Jun 19.

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