| Autor: |
Sutton, I. J., Winer, J. B., Norman, A. N., Liechti–Gallati, S., MacDonald, F. |
| Zdroj: |
Neurology (Ovid); September 2001, Vol. 57 Issue: 5 p900-902, 3p |
| Abstrakt: |
Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1mutations may present with limb girdle and facial weakness. It is proposed that manifesting heterozygote females with XLMTM have a skewed pattern of X-chromosome inactivation. However, skewed X-chromosome inactivation was not detected in either the lymphocyte or muscle DNA of a woman who presented with limb girdle/facial weakness and was found to be heterozygous for the R224X mutation. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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