Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype - Archive ouverte HAL
Journal Articles Human Genetics Year : 2003

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

Valérie Biancalana
  • Function : Author
Olivier Caron
  • Function : Author
Sabina Gallati
  • Function : Author
Frank Baas
  • Function : Author
Wolfram Kress
  • Function : Author
Giuseppe Novelli
  • Function : Author
Maria d'Apice
  • Function : Author
Clotilde Lagier-Tourenne
  • Function : Author
Anna Buj-Bello
Centre for Integrative Biology - CBI
CV
Norma Romero
  • Function : Author
Jean-Louis Mandel
  • Function : Author

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Life Sciences [q-bio]

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https://hal.science/hal-04481790

Submitted on : Wednesday, February 28, 2024-11:41:55 AM

Last modification on : Thursday, August 29, 2024-11:46:04 AM

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hal-04481790 , version 1 (28-02-2024)

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Valérie Biancalana, Olivier Caron, Sabina Gallati, Frank Baas, Wolfram Kress, et al.. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Human Genetics, 2003, 112 (2), pp.135-142. ⟨10.1007/s00439-002-0869-1⟩. ⟨hal-04481790⟩

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