Case Report
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Article title
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Abstract
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Keywords
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Introduction
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Materials and methods
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Ethics statement
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Case report
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Molecular genetic analyses
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DNA and RNA isolation
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DNA sequencing
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XCI status measurement by the human androgen receptor (HUMARA) assay
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Quantitative real-time RT-PCR
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Statistical analysis
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Results
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New truncating mutation c.190_191delAC identified in LAMP2 gene
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Males with c.190_191delAC show early cardiac phenotypes
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Decrease of healthy LAMP2 allele expression in the heart leads to cardiac phenotype in a female
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Discussion
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Appendix A. Supplementary data
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Acknowledgements
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Funding
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Competing interests
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References
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