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Items: 13

1.

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.

2.

[Myotubular myopathy].

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

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

PMID:
11119047
3.

X-linked myotubular myopathy: refinement of the critical gene region.

Smolenicka Z, Laporte J, Hu L, Dahl N, Fitzpatrick J, Kress W, Liechti-Gallati S.

Neuromuscul Disord. 1996 Aug;6(4):275-81. Review.

PMID:
8887957
4.

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.

Hum Mutat. 2000;15(5):393-409. Review.

PMID:
10790201
5.

[X-linked myotubular myopathy].

Nishino I.

Ryoikibetsu Shokogun Shirizu. 2001;(35):418-20. Review. Japanese. No abstract available.

PMID:
11555972
6.

[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
7.

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Wallgren-Pettersson C, Clarke A, Samson F, Fardeau M, Dubowitz V, Moser H, Grimm T, Barohn RJ, Barth PG.

J Med Genet. 1995 Sep;32(9):673-9. Review.

8.

X-linked myotubular myopathy: clinical and pathological findings in a family.

Oldfors A, Kyllerman M, Wahlström J, Darnfors C, Henriksson KG.

Clin Genet. 1989 Jul;36(1):5-14. Review.

PMID:
2670345
9.

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.

PMID:
16042307
10.

[X-linked recessive myotubular myopathy with a splice-site mutation in the myotubularin gene].

Watanabe T, Watanabe M, Saito T, Higashitani A, Tanaka S, Nishino I, Nonaka I.

No To Hattatsu. 1998 Nov;30(6):523-7. Review. Japanese.

PMID:
9844418
11.

[Cousins with X-linked recessive myotubular myopathy].

Mori Y, Kaneko S, Nakayama T, Date M, Nakamoto N, Kobayashi M, Sugiura M, Hashira S, Abe T, Hirokawa H, Nonaka I.

No To Hattatsu. 1997 Jul;29(4):310-4. Review. Japanese.

PMID:
9248291
12.

The future of genetic epidemiology.

Morton NE.

Ann Med. 1992 Dec;24(6):557-62. Review.

PMID:
1485953
13.

Mosaicism: Implications for Genetic Counseling and Medical Management.

Waldman L, Mahon SM.

Clin J Oncol Nurs. 2017 Aug 1;21(4):428-432. doi: 10.1188/17.CJON.428-432. Review.

PMID:
28738037

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