AI Article Synopsis
- Myotubular myopathy is a serious type of congenital myopathy, particularly the X-linked recessive form (XLMTM).
- A case study details a newborn boy exhibiting severe muscle weakness, limited movement, joint deformities, and breathing issues, with muscle biopsy confirming the condition.
- Genetic testing identified a new mutation in the MTM1 gene, emphasizing the need for a comprehensive approach that includes both tissue analysis and genetic evaluation in diagnosing muscle diseases.
Article Abstract
Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. This case underlines the importance of interdisciplinary analysis of congenital muscle diseases, including histomorphological and genetic investigations.
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| http://dx.doi.org/10.1177/0883073807301930 | DOI Listing |
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