Congenital myasthenic syndromes [PDF]
Orphanet Journal of Rare Diseases, 2019 Objectives Congenital myasthenic syndromes (CMSs) are a genotypically and phenotypically heterogeneous group of neuromuscular disorders, which have in common an impaired neuromuscular transmission.
Josef Finsterer
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Diagnosis of Congenital Myasthenic Syndromes
Pediatric Neurology Briefs, 2004 Clinical and neurophysiological data of 11 patients (4 males, 7 females) with congenital myasthenic syndromes (CMS) diagnosed between 1994 and 2000 are reported from Great Ormond Street Hospital, London, UK.
J Gordon Millichap
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The congenital myasthenic syndromes
Journal of Neuroimmunology, 2008 The congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission characterised by fatigable muscle weakness. Thus far, genetic analysis has identified mutations in eleven different genes but it is clear that additional phenotypic subgroups exist where the underlying genetics has not yet been defined.
Jackie Palace, David Beeson
exaly +4 more sources
Guideline for the management of myasthenic syndromes [PDF]
Therapeutic Advances in Neurological Disorders, 2023 Myasthenia gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS), and congenital myasthenic syndromes (CMS) represent an etiologically heterogeneous group of (very) rare chronic diseases.
Heinz Wiendl +2 more
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NMJ-related diseases beyond the congenital myasthenic syndromes [PDF]
Frontiers in Cell and Developmental Biology, 2023 Neuromuscular junctions (NMJs) are a special type of chemical synapse that transmits electrical stimuli from motor neurons (MNs) to their innervating skeletal muscle to induce a motor response.
Alejandra Navarro-Martínez +2 more
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Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats [PDF]
Journal of Veterinary Internal Medicine, 2020 Myasthenia, a syndrome of impaired neuromuscular transmission, occurs as either an acquired or congenital condition. Myasthenia gravis (MG) is an acquired autoimmune disorder with autoantibodies against the neuromuscular junction (NMJ) of skeletal muscle
Thomas Mignan, Mike Targett, Mark Lowrie
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Congenital Myasthenic Syndromes
Pediatric Neurology Briefs, 1994 A new syndrome associated with a deficiency of acetylcholine receptor (AChR) and a short open-time of the AChR channel in a 5 year-old girl with myasthenic symptoms since birth is reported from the Neuromuscular Research Laboratory, Mayo Clinic ...
J Gordon Millichap
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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era [PDF]
Orphanet Journal of Rare Diseases, 2018 Background Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission.
Rachel Thompson +6 more
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Expanding the phenotypic and imaging spectrum of GFPT1-related congenital myasthenic syndromes: a Brazilian case series [PDF]
Frontiers in NeurologyIntroductionGFPT1-related congenital myasthenic syndrome (CMS) is a rare, autosomal recessive disorder that impairs neuromuscular transmission due to defective glycosylation of the neuromuscular junction.
Antonio Edvan Camelo-Filho +8 more
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The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms [PDF]
Frontiers in Neurology, 2019 Congenital myasthenic syndromes (CMS) are a group of inherited disorders of neuromuscular transmission most commonly presenting with early onset fatigable weakness, ptosis, and ophthalmoparesis.
Stefan Nicolau, Margherita Milone
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