Results 21 to 30 of about 163 (89)

Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats

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
doaj   +1 more source

A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants

BMC Neurology, 2020
Background Variants in the SLC25A1 gene are associated with a severe neurometabolic disease, D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA). A report in 2014 presented the first account of congenital myasthenic syndrome (CMS) with mild intellectual ...
Wenhui Li, Min Zhang, Linmei Zhang, Yiyun Shi, Lei Zhao, Bingbing Wu, Xihua Li, Shuizhen Zhou   +7 more
doaj   +1 more source

Expanding African contributions to ClinVar through genetic counselor‐led variant curation

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai, Nolene Ramsunder, Tarin Europa, Jeannine Heckmann, Melissa Nel   +4 more
wiley   +1 more source

COLQ-mutant congenital myasthenic syndrome with microcephaly: A unique case with literature review

Translational Neuroscience, 2017
Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness.
Al-Mobarak Sulaiman Bazee, Al-Muhaizea Mohammad A.   +1 more
doaj   +1 more source

AChR β-Subunit mRNAs Are Stabilized by HuR in a Mouse Model of Congenital Myasthenic Syndrome With Acetylcholinesterase Deficiency

Frontiers in Molecular Neuroscience, 2020
Collagen Q (COLQ) is a specific collagen that anchors acetylcholinesterase (AChE) in the synaptic cleft of the neuromuscular junction. So far, no mutation has been identified in the ACHE human gene but over 50 different mutations in the COLQ gene are ...
Jennifer Karmouch, Perrine Delers, Fannie Semprez, Nouha Soyed, Julie Areias, Guy Bélanger, Aymeric Ravel-Chapuis, Alexandre Dobbertin, Bernard J. Jasmin, Claire Legay   +9 more
doaj   +1 more source

COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature

Heliyon, 2023
Congenital myasthenia syndromes (CMS) are a heterogeneous group of hereditary disorders of the neuromuscular junction. The symptoms include fatigue, muscle weakness, ptosis, mastication or swallowing problem, respiratory distress.
Yatao Yin, Jing Cao, Yuanteng Fan, Yan Xu   +3 more
doaj   +1 more source

A Rare Clinical Presentation of Variegate Porphyria

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
WGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
I. Viakhireva, A. Murtazina, A. Orlova, N. Makretskaya, S. Nikitin, M. Skoblov   +5 more
wiley   +1 more source

SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review

Heliyon
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of ...
Tina Yee-Ching Chan, Ling-Yin Hung, Tiffany Yan-Lok Lam, Bun Sheng, Frank Ying-Kit Leung, Hencher Han-Chih Lee   +5 more
doaj   +1 more source

De Novo CHRNE Mutation: Congenital Myasthenic Syndrome

Journal of Pediatric Research, 2019
Congenital myasthenic syndromes (CMS) are neuromuscular hereditary diseases with the symptoms of fatigue, weakness, ptosis, ophthalmoparesis and respiratory problems.
Hande Gazeteci Tekin, Sanem Yılmaz, Gül Aktan, Sarenur Gökben   +3 more
doaj   +1 more source

Congenital Myasthenic Syndrome in a Mixed Breed Dog

Frontiers in Veterinary Science, 2017
A 6-month-old, male, intact mixed breed dog was presented for a 3-month history of progressive generalized weakness. Neurologic examination revealed non-ambulatory tetraparesis, weakness of the head and neck, and decreased withdrawal reflexes in all ...
Theresa J. Blakey, Jennifer R. Michaels, Ling T. Guo, Amy J. Hodshon, G. Diane Shelton   +4 more
doaj   +1 more source