Article

Hepatobiliary disease in XLMTM. A common comorbidity with potential impact on treatment strategies

2021-07-30

Abstract excerpt

<title>Abstract</title> <p><bold>BACKGROUND:</bold> X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the <italic>MTM1</italic> gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require intensive supportive care. Long-term survivors are often non-ambulant, ventilator and feeding tube–dependen...

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Literature Corpus work: 34842a04-8816-5c85-8c0f-61e0b9a0de63
DOI: 10.21203/rs.3.rs-757577/v1

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