myotilinpositive

Myotilinpositive is a descriptive term used in pathology and diagnostic reports to indicate that tissue or cells show positive immunohistochemical staining for the protein myotilin. Immunostaining for myotilin is employed in the evaluation of skeletal muscle diseases to aid in characterizing the pattern of protein expression and to help distinguish among different myopathies.

Myotilin is a sarcomeric protein associated with the Z-discs of skeletal and cardiac muscle fibers and is encoded by the MYOT gene. Mutations in MYOT cause myotilinopathy, a form of limb-girdle muscular dystrophy (formerly LGMD1A). Immunohistochemical testing for myotilin may reveal abnormal staining patterns in certain muscle diseases, often in combination with other markers such as desmin or alpha-B crystallin, and can complement histological assessment and genetic testing.

Clinical interpretation of a myotilinpositive result depends on context. A positive result confirms the presence of myotilin protein in the examined tissue but does not by itself establish a specific diagnosis. When myotilinopathy is suspected, genetic testing for MYOT mutations is typically pursued alongside clinical evaluation, muscle imaging, and other laboratory findings.

In summary, myotilinpositive denotes positive detection of myotilin by immunostaining and is used as part of a broader diagnostic process for myopathies, including myotilin-related muscular dystrophies.