1 results match your criteria: "Department of Histopathology University of Szeged[Affiliation]"
X-linked myotubular myopathy: report of a case with novel mutation.
J Child Neurol
April 2007
Department of Histopathology University of Szeged, Szeged, Hungary.
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.