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Electromyography guides toward subgroups of mutations in muscle channelopathies
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutations inExpand
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Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with conduction defects and arrhythmias. So far,Expand
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Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
OBJECTIVE To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin proteinExpand
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Calpainopathy-a survey of mutations and polymorphisms.
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects inExpand
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Mutations in dynamin 2 cause dominant centronuclear myopathy.
Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, weExpand
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Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies
AbstractNecrotizing autoimmune myopathy (NAM) is a group of acquired myopathies characterized by prominent myofiber necrosis with little or no muscle inflammation. Recently, researchers identifiedExpand
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Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
Muscle biopsy findings in DM2 have been reported to be similar to those in DM1. The authors used myosin heavy chain immunohistochemistry and enzyme histochemistry for fiber type differentiation onExpand
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Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up.
BACKGROUND Duchenne muscular dystrophy (DMD), an X-linked disorder due to lack of dystrophin, is associated with muscle weakness and myocardial dysfunction. Although preliminary data support theExpand
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Background Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management andExpand
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Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
The prognosis of chronic progressive ophthalmoplegia with large-scale mitochondrial DNA (mtDNA) may strikingly vary from mild slowly progressive myopathy to severe multi-organ involvement. EvaluationExpand
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