Results 61 to 70 of about 163 (89)

Congenital Myasthenic Syndrome - A Report Of Nineteen Cases

Annals of Indian Academy of Neurology, 2001
Congenital myasthenic syndrome (CMS) is a rare disorder of the neuromuscular junction. We report here 19 patients, 7 sporadic and 12 from 6 families, with the age at diagnosis ranging between 1.5 years to 26 years (Mean-15yrs).
Girija AS, somanath V, John JK, Jose J
doaj  

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile

European Journal of Translational Myology, 2017
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness ...
Jorge A. Bevilacqua, Marian Lara, Jorge Díaz, Mario Campero, Jessica Vászquez, Ricardo A. Maselli   +5 more
doaj   +1 more source

Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea

Frontiers in Pharmacology, 2019
Congenital myasthenic syndromes (CMSs) are a group of inherited disorders caused by genetic defects in neuromuscular junctions. Mutations in CHAT, encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a ...
Zhimei Liu, Li Zhang, Li Zhang, Danmin Shen, Changhong Ding, Xinying Yang, Weihua Zhang, Jiuwei Li, Jie Deng, Shuai Gong, Jun Liu, Suyun Qian, Fang Fang   +12 more
doaj   +1 more source

Hidden diagnoses among patients with double seronegative myasthenia gravis

Frontiers in Neurology
IntroductionDouble seronegative myasthenia gravis (dSnMG) is defined as myasthenia gravis (MG) without detectable antibodies to acetylcholine receptor (AChR) and muscle-specific kinase (MuSK).
Vukan Ivanovic, Stojan Peric, Stojan Peric, Caitlin Briggs, Ana Marjanovic, Jovan Pesovic, Ivana Basta, Ivana Basta, Johan Jansson, Simrat Randhawa, Sonja Rajic, Sankalp Gokhale   +11 more
doaj   +1 more source

DOK7 congenital myasthenic syndrome: case series and review of literature

BMC Neurology
Background Congenital myasthenic syndromes (CMS) are among the most challenging differential diagnoses in the neuromuscular domain, consisting of diverse genotypes and phenotypes. A mutation in the Docking Protein 7 (Dok-7) is a common cause of CMS. DOK7
Bentolhoda Ziaadini, Bardyia Ghaderi Yazdi, Elham Dirandeh, Reza Boostani, Narges Karimi, Akram Panahi, Ariana Kariminejad, Mahsa Fadaee, Fatemeh Ahangari, Shahriar Nafissi   +9 more
doaj   +1 more source

Structures of the human adult muscle-type nicotinic receptor in resting and desensitized states

Cell Reports
Summary: Muscle-type nicotinic acetylcholine receptor (AChR) is the key signaling molecule in neuromuscular junctions. Here, we present the structures of full-length human adult receptors in complex with Fab35 in α-bungarotoxin (αBuTx)-bound resting ...
Anna Li, Ashley C.W. Pike, Richard Webster, Susan Maxwell, Wei-Wei Liu, Gamma Chi, Jacqueline Palace, David Beeson, David B. Sauer, Yin Yao Dong   +9 more
doaj   +1 more source

P506: An integrative view of COLQ-related congenital myasthenic syndrome

Genetics in Medicine Open, 2023
Tina Eshaghian, Bahareh Rabbani, Reza Shervin Badv, Sahar Mikaeeli, Behdad Gharib, Stanley Iyadurai   +5 more
doaj   +1 more source

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum

Orphanet Journal of Rare Diseases
Background Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate.
Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad, Shahriar Nafissi   +7 more
doaj   +1 more source

Congenital myasthenic syndrome with a rare mutation diagnosed at adult age

Neurological Sciences and Neurophysiology, 2023
Gokhan Gorken, Hande Kulak Abay
doaj   +1 more source

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Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features

Journal of Child Neurology, 2021
Partha S Ghosh
exaly