International audienceMutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder. Early onset of symptoms with hypotonia, motor developmental delay, proximal muscle weakness, and a stable course were common clinical features in the cohort. Ptosis and/or ophthalmoparesis, fac...
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes ...
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous famil...
Objective Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of...
International audienceMutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging fro...
Centronuclear myopathy is a genetically heterogeneous congenital myopathy. Whilst mutations in the m...
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes ...
Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with bo...
RYR1 mutations are the most common cause of structural congenital myopathies and may exhibit both do...
Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with bo...
International audienceAIMS: To report the clinical, pathological and genetic findings in a group of ...
Aims: To report the clinical, pathological and genetic findings in a group of patients with a previ...
International audienceOBJECTIVE: To characterize the muscle involvement of patients with central cor...
Congenital myopathies are early onset hereditary muscle disorders. A sub-group of these is associate...
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes ...
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous famil...
Objective Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of...
International audienceMutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging fro...
Centronuclear myopathy is a genetically heterogeneous congenital myopathy. Whilst mutations in the m...
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes ...
Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with bo...
RYR1 mutations are the most common cause of structural congenital myopathies and may exhibit both do...
Ryanodine receptor 1 (RYR1) mutations are a common cause of congenital myopathies associated with bo...
International audienceAIMS: To report the clinical, pathological and genetic findings in a group of ...
Aims: To report the clinical, pathological and genetic findings in a group of patients with a previ...
International audienceOBJECTIVE: To characterize the muscle involvement of patients with central cor...
Congenital myopathies are early onset hereditary muscle disorders. A sub-group of these is associate...
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes ...
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous famil...
Objective Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of...