Concepedia

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Annie Laquerrière, Norma B. Romero, Tanya Stojkovic, Osório Lopes Abath Neto, Sandra Mercier, Nicol C. Voermans, Laura M. Tanner,

Acta Neuropathologica · 2017 · 62 citations · 59 references

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References

59

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

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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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Mutations in dynamin 2 cause dominant centronuclear myopathy

Marc Bitoun, Svetlana Maugenre, Pierre‐Yves Jeannet et al. · Nature Genetics · 2005 · 461 citations

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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Anne-Sophie Nicot, Anne Toussaint, Valérie Tosch et al. · Nature Genetics · 2007 · 433 citations

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X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

James Amos‐Landgraf, Amy A. Cottle, Robert M. Plenge et al. · The American Journal of Human Genetics · 2006 · 355 citations · Full text

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