Scientific Reports, 2023 Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity.
Sarinya Summa +8 more
doaj +1 more source
Basic requirements to establish a neuromuscular laboratory
Indian Journal of Pathology and Microbiology, 2022 Histopathological analysis of muscle biopsy is a prerequisite in the evaluation of neuromuscular disorders, particularly inflammatory myopathies, metabolic myopathies, congenital myopathies, muscular dystrophies and differentiating myopathies and ...
Bevinahalli N Nandeesh +2 more
doaj +1 more source
Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation [PDF]
, 2013 We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...
Rokach, O. +43 more
core +2 more sources
Congenital RYR1-Associated Myopathies
Pediatric Neurology Briefs, 2013 Investigators from the Children’s Hospital of Philadelphia, NINDS, and other centers in the US and France, report a series of 11 patients with severe neonatal RYR1-associated myopathy confirmed by genetic testing.
J Gordon Millichap
doaj +1 more source
Recent advances in understanding congenital myopathies. [PDF]
F1000Res, 2018 By definition, congenital myopathy typically presents with skeletal muscle weakness and hypotonia at birth. Traditionally, congenital myopathy subtypes have been predominantly distinguished on the basis of the pathological hallmarks present on skeletal ...
Ravenscroft G +3 more
europepmc +2 more sources
SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]
, 2009 This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core +1 more source
Congenital myopathies: an update
, 2020 Congenital myopathies comprise a clinical, histopathological, and genetic heterogeneous group of rare hereditary muscle diseases that are defined by architectural abnormalities in the muscle fibres.
Claeys, Kristl G.
core +1 more source
Gene therapy in monogenic congenital myopathies. [PDF]
Methods, 2016 International audienceCurrent treatment options for patients with monogenetic congenital myopathies (MCM) ameliorate the symptoms of the disorder without resolving the underlying cause.
Guan X +3 more
europepmc +2 more sources
A national registry for juvenile dermatomyositis and other paediatric idiopathic inflammatory myopathies: 10 years' experience; the Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies [PDF]
, 2010 Objectives: The paediatric idiopathic inflammatory myopathies (IIMs) are a group of rare chronic inflammatory disorders of childhood, affecting muscle, skin and other organs.
Juvenile Dermatomyositis Research Group +15 more
core +1 more source
Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. [PDF]
PLoS ONE, 2015 Congenital myopathies are rare skeletal muscle diseases presenting in early age with hypotonia and weakness often linked to a genetic defect. Mutations in the gene for cofilin-2 (CFL2) have been identified in several families as a cause of congenital ...
Sarah U Morton +4 more
doaj +1 more source