Dusty core disease (DuCD) is a recently described form of congenital myopathy with
clinicopathological implications. The presence of “dusty core fibers” is the defining …

Several morphological phenotypes have been associated to RYR1-recessive myopathies.
We recharacterized the RYR1-recessive morphological spectrum by a large monocentric …

Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an
autosomal recessive disorder and is due to mutations in the GNE gene that regulates the …

Background Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy
characterised by the presence of cores in the muscle fibres which correspond to broad areas …

BRIEF COMMUNICATIONS and was still not walking. Tendon reflexes were absent in his
lower extremities. His cranial nerves examination was normal and there was no myotonia …

Congenital myopathies are an expanding spectrum of neuromuscular disorders with early
infantile or childhood onset hypotonia and slowly or nonprogressive skeletal muscle …

Background Central core disease (CCD) is a congenital myopathy characterized by
distinctive cores in muscle fibers. Mutations in the gene encoding ryanodine receptor 1 …

Objective To explore the clinical features and genetic etiology of a child with Central core
disease (CCD). Methods A child with CCD who was treated at the Children's Hematology …

Objectives: To study the phenotypic features and histopathological features in patients with
DMRV. Materials and Methods: Twenty-one patients with features of Nonaka's distal …

The congenital myopathies are a group of disorders that are difficult to distinguish.
Diagnosis is frequently dependent on the result of histological examination of muscle biopsy …