Results 11 to 20 of about 10,028,553 (168)

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Neuromuscular Disorders, 2012
Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out of them carrying mutations in CLCN1 gene and eight carry ...
Adela Escudero, Francisco Barros, Pilar de la Peña   +2 more
exaly   +3 more sources

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia [PDF]

Iranian Journal of Medical Sciences, 2016
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene.
Mohammad Miryounesi, Soudeh Ghafouri-Fard, Majid Fardaei   +2 more
doaj   +2 more sources

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients

Chinese Medical Journal, 2016
Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations.
Hong-Xia Wang, Hong-Fu Li, Gong-Lu Liu, Xiao-Dan Wen, Zhi-Ying Wu   +4 more
doaj   +2 more sources

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

PLoS ONE, 2020
Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4.
Chenyu Zhao, DongFang Tang, Hui Huang, Haiyan Tang, Yuan Yang, Min Yang, Yingying Luo, Huai Tao, Jianguang Tang, Xi Zhou, Xiaoliu Shi   +10 more
doaj   +2 more sources

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family [PDF]

Frontiers in Genetics, 2023
Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Nurul Huda Musa, Nurul Huda Musa, Karuppiah Thilakavathy, Karuppiah Thilakavathy, Nur Afiqah Mohamad, Nur Afiqah Mohamad, Marina L. Kennerson, Marina L. Kennerson, Liyana Najwa Inche Mat, Wei Chao Loh, Anna Misyail Abdul Rashid, Janudin Baharin, Azliza Ibrahim, Wan Aliaa Wan Sulaiman, Fan Kee Hoo, Hamidon Basri, Abdul Hanif Khan Yusof Khan   +16 more
doaj   +2 more sources

Interference of Small Sequence Variants with MLPA in <i>CLCN1</i>: Implications for Congenital Myotonia Diagnosis. [PDF]

Genes (Basel)
Background/Objectives: Congenital myotonia (CM) is an inherited neuromuscular disorder caused by mutations in the Chloride Voltage-Gated Channel 1 (CLCN1) gene, encoding the Chloride Channel 1 (CIC-1) in skeletal muscle.
Busacca M, Canioni E, Brugnoni R.
europepmc   +2 more sources

Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy. [PDF]

PLoS ONE
Equine myotonic dystrophy (eMD) is a rare neuromuscular disorder of undetermined origin marked by muscle hypertrophy and stiffness, dystrophic muscle histopathology, and myotonic discharges.
Stephanie J Valberg, Zoë J Williams, Elizabeth G Ames, James R Mickelson, Yvette S Nout-Lomas, Gabriele Landolt, Macarena Sanz, Keri Gardner   +7 more
doaj   +2 more sources

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in <i>CLCN1</i>. [PDF]

Animals (Basel)
Simple Summary Myotonia congenita is an inherited disease in humans and animals caused by genetic variants in the CLCN1 gene. The disease is characterised by an inability of muscles to quickly relax after contraction, which can result in stiff movements ...
Manning LK, Eager KLM, Willet CE, Slattery S, McNally JH, Spiers ZB, Hazelton M, Child G, Duggan R, O'Rourke BA, Tammen I.   +10 more
europepmc   +2 more sources

Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs

Animals
(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin, and ...
G. Diane Shelton, James R. Mickelson, Steven G. Friedenberg, Jonah N. Cullen, Karina Graham, Missy C. Carpentier, Ling T. Guo, Katie M. Minor   +7 more
doaj   +2 more sources

Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia [PDF]

Frontiers in Veterinary Science
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump.
Gabriel Utida Eguchi, Mariana Isa Poci Palumbo, Fabrício Moreira Cerri, Roberta Martins Basso, José Paes de Oliveira-Filho, Silvana Marques Caramalac, Alexandre Secorun Borges   +6 more
doaj   +2 more sources