Concepedia

Genotype–phenotype correlations in X-linked myotubular myopathy

Meriel McEntagart, Gretchen Parsons, Anna Buj‐Bello, Valérie Biancalana, Iain Fenton, Mark A. Little, Michael Krawczak, Nick Thomas, Gail E. Herman, Angus Clarke,

Neuromuscular Disorders · 2002 · 154 citations · 17 references

DOI

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References

17

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

Jocelyn Laporte, Ling Hu, Christine Kretz et al. · Nature Genetics · 1996 · 626 citations

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Myotubular Myopathy

Alfred J. Spiro · Archives of Neurology · 1966 · 363 citations

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

Gregory S. Taylor, Tomohiko Maehama, Jack E. Dixon · Proceedings of the National Academy of Sciences · 2000 · 329 citations

, , +16

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

F. Blondeau, Jocelyn Laporte, Stéphane Bodin et al. · Human Molecular Genetics · 2000 · 256 citations · Full text

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

Gail E. Herman, Milton J. Finegold, Wei Zhao et al. · The Journal of Pediatrics · 1999 · 190 citations

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