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Items: 1 to 20 of 91

1.
2.

Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.

Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nonaka I, Nishino I.

Neuromuscul Disord. 2005 Mar;15(3):245-52. Epub 2005 Jan 28.

PMID:
15725586
3.

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

Hu LJ, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N.

Hum Mol Genet. 1996 Jan;5(1):139-43.

PMID:
8789451
4.

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

Vincent MC, Guiraud-Chaumeil C, Laporte J, Manouvrier-Hanu S, Mandel JL.

J Med Genet. 1998 Mar;35(3):241-3.

5.

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.

PMID:
9305655
6.
7.

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Dahl N, Hu LJ, Chery M, Fardeau M, Gilgenkrantz S, Nivelon-Chevallier A, Sidaner-Noisette I, Mugneret F, Gouyon JB, Gal A, et al.

Am J Hum Genet. 1995 May;56(5):1108-15.

8.

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
9.

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.

Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, Liechti-Gallati S.

Hum Genet. 1999 Mar;104(3):249-53.

PMID:
10323249
10.

Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1).

Kioschis P, Wiemann S, Heiss NS, Francis F, Götz C, Poustka A, Taudien S, Platzer M, Wiehe T, Beckmann G, Weber J, Nordsiek G, Rosenthal A.

Genomics. 1998 Dec 1;54(2):256-66.

PMID:
9828128
11.

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy.

Laporte J, Kioschis P, Hu LJ, Kretz C, Carlsson B, Poustka A, Mandel JL, Dahl N.

Genomics. 1997 May 1;41(3):458-62.

PMID:
9169146
12.

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
13.

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.

de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE.

Hum Mol Genet. 1997 Sep;6(9):1499-504.

PMID:
9285787
14.

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
15.

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
16.

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.

Tanner SM, Schneider V, Thomas NS, Clarke A, Lazarou L, Liechti-Gallati S.

Neuromuscul Disord. 1999 Jan;9(1):41-9.

PMID:
10063835
17.

[Myotubular myopathy].

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

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

PMID:
11119047
18.

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

Buj-Bello A, Biancalana V, Moutou C, Laporte J, Mandel JL.

Hum Mutat. 1999;14(4):320-5.

PMID:
10502779
19.

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
20.

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL.

Hum Genet. 2003 Feb;112(2):135-42. Epub 2002 Nov 28.

PMID:
12522554

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