Title: | Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation |
Journal : | Neuromuscular disorders : NMD, 13 |
Authors: | Jungbluth H ; Sewry CA ; Buj Bello A ; Kristiansen M ; Orstavik KH ; Kelsey A ; Manzur AY ; Mercuri E ; Wallgren-Pettersson C ; Muntoni F |
Material Type: | Article |
Publication Date: | 2003 |
Size: | p. 55-59 |
Languages: | English |
Keywords : | case studies ; children ; chromosome X ; female ; genetic mutations ; genotype-phenotype correlation ; molecular genetics ; MRI ; MTM1 gene ; muscle biopsies ; X chromosome inactivation ; X-linked myotubular myopathy |