X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.
case_report · Level V
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- Record sourced from PubMed, PMID 12707446.
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Abstract
X-linked myotubular myopathy usually affects male infants with a severe phenotype leading to early death or survival with severe handicaps. Female carriers have been reported manifesting in childhood with slowly progressive muscle weakness only. The authors describe a now 5-year-old girl with prenatal/neonatal onset of an X-linked myotubular myopathy due to a 605delT mutation in the myotubularin gene.
Medical subject headings
- Frameshift Mutation
- Genetic Diseases, X-Linked
- Myopathies, Structural, Congenital
- Protein Tyrosine Phosphatases