Diagnosis of X-linked myotubular myopathy by detection of myotubularin. (Q40792130)

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9 November 2019

title

Diagnosis of X-linked myotubular myopathy by detection of myotubularin (English)

1 reference

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X-linked myotubular myopathy

9 November 2019

main subject

1 reference

3

1 reference

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9 November 2019

author name string

J Laporte

series ordinal

1

1 reference

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9 November 2019

W Kress

series ordinal

2

1 reference

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9 November 2019

publication date

1 July 2001

1 reference

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9 November 2019

1 reference

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9 November 2019

volume

50

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9 November 2019

issue

1

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9 November 2019

page(s)

42-46

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

9 November 2019

cites work

1 reference

MTM1 mutations in X-linked myotubular myopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

21 January 2018

1 reference

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

21 January 2018

1 reference

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

21 January 2018

1 reference

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

21 January 2018

1 reference

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

21 January 2018

1 reference

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

21 January 2018

1 reference

Familial "myotubular" myopathy

21 January 2018

1 reference