myotubular myopathy การใช้

• The most commonly diagnosed CNM is myotubular myopathy ( MTM ).
• Many patients with myotubular myopathy die in infancy prior to receiving a formal diagnosis.
• The foundation raises funds for medical research of myotubular myopathy, and other related congenital myopathies.
• X-linked myotubular myopathy was traditionally a fatal condition of infancy, with life expectancy of usually less than two years.
• Among centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy.
• However, muscle biopsy analysis alone cannot reliably distinguish myotubular myopathy from other forms of centronuclear myopathies, and thus genetic testing is required.
• Many researchers use the term " myotubular myopathy " ( MTM ) only for cases when the genetic test has come back positive for abnormalities ( genetic mutations ) at the MTM1 gene on the X chromosome.
• Many clinicians and researchers use the abbreviations XL-MTM, XLMTM or X-MTM to emphasize that the genetic abnormality for myotubular myopathy ( MTM ) is X-linked ( XL ), having been identified as occurring on the X chromosome.
• As a reference to the term myotubular myopathy ( MTM ), when a genetic abnormality on the X chromosome was determined to be involved in a substantial percentage of individuals with the myotubular / centronuclear appearance on muscle biopsy, researchers named the gene segment MTM1.