(Q34038900)

30 July 2017

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title

72nd ENMC International Workshop: myotubular myopathy 1-3 October 1999, Hilversum, The Netherlands (English)

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30 July 2017

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Wallgren-Pettersson C

series ordinal

1

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30 July 2017

publication date

1 October 2000

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30 July 2017

published in

Neuromuscular Disorders

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30 July 2017

volume

10

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30 July 2017

issue

7

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30 July 2017

page(s)

525-529

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Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy

30 July 2017

cites work

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X-linked myotubular myopathy. 33rd ENMC International Workshop Soest. The Netherlands, 9-11 June 1995.

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58th ENMC workshop: myotubular myopathy 20-22 March, 1998, Naarden, The Netherlands

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7 January 2021

Familial "myotubular" myopathy

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X-linked myotubular myopathy with fatal neonatal asphyxia

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X-linked myotubular myopathy--a long-term follow-up study

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The role of immunocytochemistry in congenital myopathies

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Association of SET domain and myotubularin-related proteins modulates growth control

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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

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Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy

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

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

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7 January 2021

A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy

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Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene

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

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

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7 January 2021

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

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7 January 2021

Medical complications in long-term survivors with X-linked myotubular myopathy.

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

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7 January 2021

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

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Identifiers

DOI

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30 July 2017

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