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Items: 1 to 20 of 102

1.

Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy.

Breningstall GN, Grover WD, Marks HG.

Am J Med Genet. 1991 Apr 1;39(1):13-8.

PMID:
1867257
2.
3.

Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder.

Bucher HU, Boltshauser E, Briner J, Gnehm HE, Janzer RC.

Helv Paediatr Acta. 1986 Oct;41(4):291-300.

PMID:
3793508
4.

Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns.

Sawchak JA, Sher JH, Norman MG, Kula RW, Shafiq SA.

Neurology. 1991 Jan;41(1):135-40.

PMID:
1824643
5.

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
6.

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.

7.

X-linked myotubular myopathy: a linkage study.

Darnfors C, Larsson HE, Oldfors A, Kyllerman M, Gustavson KH, Bjursell G, Wahlström J.

Clin Genet. 1990 May;37(5):335-40.

PMID:
1972354
8.

Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy.

Kimura S, Sugino S, Ohtani Y, Matsukura M, Nishino I, Ikezawa M, Sakata A, Kondo Y, Yoshioka K, Huard J, Nonaka I, Miike T.

Ann Neurol. 1998 Dec;44(6):967-71.

PMID:
9851444
9.

Perinatal diagnosis of myotubular (centronuclear) myopathy: a case report.

Collins JE, Collins A, Radford MR, Weller RO.

Clin Neuropathol. 1983;2(2):79-82.

PMID:
6851300
10.

Centronuclear myopathy and type-1 hypotrophy without central nuclei. Distinct nosologic entities?

Lo WD, Barohn RJ, Bobulski RJ, Kean J, Mendell JR.

Arch Neurol. 1990 Mar;47(3):273-6.

PMID:
2310312
11.

X-linked myopathy with excessive autophagy: a new hereditary muscle disease.

Kalimo H, Savontaus ML, Lang H, Paljärvi L, Sonninen V, Dean PB, Katevuo K, Salminen A.

Ann Neurol. 1988 Mar;23(3):258-65.

PMID:
2897824
12.

Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.

Heckmatt JZ, Sewry CA, Hodes D, Dubowitz V.

Brain. 1985 Dec;108 ( Pt 4):941-64.

PMID:
4075080
13.

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
14.

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

Thomas NS, Williams H, Cole G, Roberts K, Clarke A, Liechti-Gallati S, Braga S, Gerber A, Meier C, Moser H, et al.

J Med Genet. 1990 May;27(5):284-7.

15.

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.

Janssen EA, Hensels GW, van Oost BA, Hamel BC, Kemp S, Baas F, Weber JW, Barth PG, Bolhuis PA.

Neuromuscul Disord. 1994 Sep-Nov;4(5-6):455-61.

PMID:
7881289
16.

X-linked myotubular myopathy: clinical observations in ten additional cases.

Joseph M, Pai GS, Holden KR, Herman G.

Am J Med Genet. 1995 Nov 6;59(2):168-73.

PMID:
8588581
17.

X-linked infantile spinal muscular atrophy.

Greenberg F, Fenolio KR, Hejtmancik JF, Armstrong D, Willis JK, Shapira E, Huntington HW, Haun RL.

Am J Dis Child. 1988 Feb;142(2):217-9.

PMID:
3341327
18.

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
19.

[Myotubular myopathy linked to chromosome X. Pathological and clinical case study].

García-Bragado F, Hernández M, de Miguel C, López Unzu A, Martínez B.

Arch Neurobiol (Madr). 1990 May-Jun;53(3):134-7. Spanish.

PMID:
2241471
20.

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

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