Results 41 to 50 of about 2,290 (109)

Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P

Frontiers in Physiology
IntroductionOur aims were to provide an integrated clinical and biophysical characterization of the rare variant NM_000334.4(SCN4A) c.4307T>C (p.Leu1436Pro; L1436P), affecting the skeletal muscle sodium channel Nav1.4, and to compare its functional ...
François Charles Wang, François Charles Wang, Olivier Bouquiaux, Olivier Bouquiaux, Isabelle Lievens, Bernard Lakaye, Laura Vandries, Margaux Poleur, Samira Abdou Ide, Nurcan Inci, Vincent Seutin   +10 more
doaj   +1 more source

Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated ...
Jie ZHONG, Jin-fu LIN, Cheng ZHANG, Xin-jing ZHONG, Xue-ling CHEN, Jing LI, Yu-ling ZHU   +6 more
doaj  

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita

Frontiers in Genetics
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1.
Sabrina Lucchiari, Francesco Fortunato, Giovanni Meola, Andrea Mignarri, Serena Pagliarani, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Dario Ronchi, Dario Ronchi   +10 more
doaj   +1 more source

Drug treatment for myotonia [PDF]

BACKGROUND: Abnormal delayed relaxation of skeletal muscles, known as myotonia, can cause disability in myotonic disorders. The main myotonic disorders are non-dystrophic myotonia and myotonic dystrophy.
Trip, Jeroen, Nevitt, Sarah J., Spillane, Jennifer, Hanna, Michael G., Drost, Gea, Hanna, Michael G, Drost, Gea; id_orcid, Faber, Catharina G., Faber, Catharina G, Nevitt, Sarah J, Vivekanandam, Vinojini   +10 more
core   +1 more source

Inhibiting persistent inward sodium currents prevents myotonia

, 2017
Patients with myotonia congenita have muscle hyperexcitability due to loss-of-function mutations in the ClC-1 chloride channel in skeletal muscle, which causes involuntary firing of muscle action potentials (myotonia), producing muscle stiffness.
Voss, Andrew A., Rich, Mark M., Hawash, Ahmed A., Mark M. Rich, Ahmed A. Hawash, Andrew A. Voss   +5 more
core   +1 more source

An unusual case with myotonia [PDF]

, 2013
We report an unusual case involving a patient with myotonia. A 57-year-old man had multisystemic symptoms including skeletal muscle weakness, atrophy and percussion myotonia, cataract, heart involved, gastrointestinal tract symptoms, and urinary ...
Yu-Wei Da, Jian-Ping Jia, Li, Yun, Lu, Yan, Jia, Jian-Ping, Min Wang, Yun Li, Da, Yu-Wei, Wang, Min, Yan Lu   +9 more
core   +1 more source

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Epilepsia Open, 2019
SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea.
Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç, Roope Mannikko, Michael G. Hanna, Sanjay M. Sisodiya, Hande S. Çağlayan   +8 more
doaj   +1 more source

Genetically Confirmed Schwartz–Jampel Syndrome: An Ultra-Rare Case of Congenital Myotonia with Osteochondrodysplasia from India

International Journal of Medical Students
Background: Schwartz–Jampel syndrome is a rare autosomal recessive disorder caused by mutations in the HSPG2 gene, leading to perlecan deficiency. Perlecan is a heparan sulfate proteoglycan critical for cartilage integrity, basement membrane stability ...
Nandita Jali, Suvarna Magar, Tanya Trikha, Varsha Vaidya, Viranchi Vaidya   +4 more
doaj   +1 more source

An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies

Frontiers in Neurology, 2020
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
doaj   +1 more source

Myotonia congenita — a successful response to carbamazepine

, 2006
Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course.
Hyderi, Abbas, Farhan-Ul-Haque, ., Savitha, M. R., Ramachandra, Nallur B., Krishnamurthy, B.   +4 more
core   +1 more source