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The congenital myopathies with protein aggregates and inclusions are a subgroup of structural congenital myopathies characterized by aggregation of proteins in muscle. They include Nemaline Myopathy, Core Rod Myopathy, Cap Disease, Reducing body Myopathy, Cylindrical spirals Myopathy, and other entities presenting less distinct protein inclusions. This subgroup represents around 40 % of all biopsies...
Collagen VI-myopathies regroup several forms of neuromuscular disorders caused by the deficiency of collagen type VI (COLVI), a protein that contributes to the architectural structure of muscle, its maintenance and survival. COLVI-myopathies constitute a spectrum of clinical presentations ranging from severe, early-onset phenotypes, to intermediate and milder phenotypes, with Ullrich congenital muscular...
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