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	<title>restrictive ventilatory impairment &#8211; BIOENGINEER.ORG</title>
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	<title>restrictive ventilatory impairment &#8211; BIOENGINEER.ORG</title>
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		<title>Novel De Novo MTM1 Frameshift Variant Drives Severe Muscle Disease in a Young Chinese Woman</title>
		<link>https://bioengineer.org/novel-de-novo-mtm1-frameshift-variant-drives-severe-muscle-disease-in-a-young-chinese-woman/</link>
		
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		<pubDate>Mon, 05 Oct 2026 21:05:36 +0000</pubDate>
				<category><![CDATA[Biology]]></category>
		<category><![CDATA[centronuclear myopathy]]></category>
		<category><![CDATA[de novo mutation]]></category>
		<category><![CDATA[female carriers]]></category>
		<category><![CDATA[frameshift variant]]></category>
		<category><![CDATA[genetic counseling]]></category>
		<category><![CDATA[MTM1]]></category>
		<category><![CDATA[muscle MRI]]></category>
		<category><![CDATA[myotubularin]]></category>
		<category><![CDATA[restrictive ventilatory impairment]]></category>
		<category><![CDATA[skewed X-inactivation]]></category>
		<category><![CDATA[whole-exome sequencing]]></category>
		<category><![CDATA[X-linked myotubular myopathy]]></category>
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					<description><![CDATA[A novel de novo MTM1 frameshift variant has been identified in a Chinese woman with lifelong progressive muscle weakness, expanding the recognized spectrum of X-linked myotubular myopathy in females.]]></description>
		
		
		
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