Calreticulin mutation in a case of myopathy


Awareness of the genetic variants of human skeletal myopathies has grown, it has become noticeable that many muscle disorders fall into categories based on the fact that they primarily involve alterations of one of these structures. Study of muscle diseases by substructural calcium homeostasis is useful in terms of understanding disease pathogenesis and eventually for therapy development. Several genetic variants were known linked with diverse myopathy as well as ryanodine receptor 1 (RYR1) related to malignant hyperthermia (MH).


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