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.
MeSH terms
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Adult
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Dosage Compensation, Genetic
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Extremities / pathology
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Face / pathology
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Female
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Genetic Carrier Screening*
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Genetic Linkage / genetics*
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Humans
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Infant
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Male
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Muscle Weakness / genetics*
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Muscle Weakness / pathology
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Muscle, Skeletal / pathology
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Mutation / genetics
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Myopathies, Structural, Congenital / genetics*
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Myopathies, Structural, Congenital / pathology
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Pedigree
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Protein Tyrosine Phosphatases / genetics*
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Protein Tyrosine Phosphatases, Non-Receptor
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X Chromosome / genetics*
Substances
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Protein Tyrosine Phosphatases
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Protein Tyrosine Phosphatases, Non-Receptor
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myotubularin