Mutations in the E-sarcoglycan gene (SGCE) have been reported in families with myoclonus-dystonia (M-D). in addition to abnormal movements, obsessive- compulsive disorder (OCD) has also been described in families with M-D. ...

Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. in ...

INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of ...

Introduction: Mutations in the delta sarcoglycan gene (δ-SG ) cause muscular waist dystrophy with cardiomyopathy. For the mouse model deficient in this gene are observed alterations in cardiac muscle and smooth muscle, and ...

The neuromuscular disorders are a heterogeneous group of genetic diseases, caused by mutations in genes coding sarcolemmal, sarcomeric, and citosolic muscle proteins. Deficiencies or loss of function of these proteins leads ...

Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb-girdle muscular dystrophy type 2G (LGMD2G). We investigated the sarcomeric ...

The mechanism of isoproterenol-induced myocardial damage is unknown, but a mismatch of oxygen supply vs. demand following coronary hypotension and myocardial hyperactivity is the best explanation for the complex morphological ...