Search results for "Genetic mosaic"

Cap disease uncapped

2007

With the advent of enzyme histochemistry and electron microscopy, the new nosographic group of congenital myopathies hailed as ‘‘new myopathies’’ [1] was established, largely based on morphological features in biopsied muscle specimens although clinically early (congenital) onset and mild progression were also attributed to these childhood myopathies. When molecular investigations of patients with hereditary neuromuscular diseases began, earlier classifications based on clinical, morphological, and metabolic criteria started to quake, most conspicuously observed in the group of limb girdle muscular dystrophy or limb girdle muscular syndrome, which now comprise seven autosomal dominant (LGMD…