{"id":13351,"date":"2024-08-23T01:01:53","date_gmt":"2024-08-22T23:01:53","guid":{"rendered":"https:\/\/valintermed.com\/?p=13351"},"modified":"2024-08-23T01:01:53","modified_gmt":"2024-08-22T23:01:53","slug":"miotubulyarnaya-miopatiya-stseplennaya-s-h-hromosomoy","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/myotubular-myopathy-of-the-chromosomal-system\/","title":{"rendered":"X-linked myotubular myopathy"},"content":{"rendered":"
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X-linked myotubular myopathy is an inherited disorder characterized by progressive muscle weakness and wasting caused by mutations in genes located on the X chromosome, most commonly in the MTM1 gene. This myopathy belongs to a group of rare diseases that affect skeletal muscle, manifesting clinically already in early childhood, but can also manifest in adults. The disease usually affects males, since X-linked diseases are more common in individuals with one X chromosome. Muscles lose their functionality, which leads to varying degrees of impaired motor activity. In severe cases, respiratory failure and other serious complications may develop.<\/p>\n

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