Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, hete
rozygous female carriers of MTM1 mutations 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 musc
le DNA of a woman who presented with limb girdle/facial weakness and was fo
und to be heterozygous for the R224X mutation.