Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.
case_report · Level V
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Abstract
Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous 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 muscle DNA of a woman who presented with limb girdle/facial weakness and was found to be heterozygous for the R224X mutation.
Medical subject headings
- Genetic Carrier Screening
- Genetic Linkage
- Muscle Weakness
- Myopathies, Structural, Congenital
- Protein Tyrosine Phosphatases
- X Chromosome