Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 127

1.

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.

PMID:
21488203
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
16288675
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
20682747
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB.

Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16.

PMID:
19084976
[PubMed - indexed for MEDLINE]
8.

[Myotubular myopathy. Case report and review of the literature].

Kovács SK, Korcsik J, Szabó H, Bódi I, Katona M, Bereg E, Endreffy E, Túri S, Hortobágyi T, Sztriha L.

Orv Hetil. 2007 Sep 16;148(37):1757-62. Review. Hungarian.

PMID:
17827085
[PubMed - indexed for MEDLINE]
Free Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
18817572
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Large duplication in MTM1 associated with myotubular myopathy.

Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ.

Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28.

PMID:
23273872
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
23559977
[PubMed]
Free PMC Article
14.

Floppy infant caused by MTM1 mutation: a first genetically-confirmed X-linked myotubular myopathy patient in Thailand.

Liewluck T, Raksadawan N, Limwongse C, Nishino I, Sangruchi T.

J Med Assoc Thai. 2006 Jan;89(1):99-105.

PMID:
16583589
[PubMed - indexed for MEDLINE]
15.

A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy.

Hammans SR, Robinson DO, Moutou C, Kennedy CR, Dennis NR, Hughes PJ, Ellison DW.

Neuromuscul Disord. 2000 Feb;10(2):133-7.

PMID:
10714588
[PubMed - indexed for MEDLINE]
16.

Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.

Sutton IJ, Winer JB, Norman AN, Liechti-Gallati S, MacDonald F.

Neurology. 2001 Sep 11;57(5):900-2.

PMID:
11552027
[PubMed - indexed for MEDLINE]
17.

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.

Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH.

Hum Mol Genet. 2012 Feb 15;21(4):811-25. doi: 10.1093/hmg/ddr512. Epub 2011 Nov 7.

PMID:
22068590
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

[Myotubular myopathy].

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

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

PMID:
11119047
[PubMed - indexed for MEDLINE]
19.

X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.

Schara U, Kress W, Tücke J, Mortier W.

Neurology. 2003 Apr 22;60(8):1363-5.

PMID:
12707446
[PubMed - indexed for MEDLINE]
20.

Gene symbol: MTM1. Disease: Myotubular myopathy.

Mueller OT.

Hum Genet. 2008 Jun;123(5):538. No abstract available.

PMID:
20960603
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk