Results 151 to 160 of about 2,738 (205)

A Case of Congenital Myotonia Caused by Compound Heterozygous Mutations in CLCN1 Gene

Advances in Clinical Medicine
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The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa. [PDF]

Eur J Hum Genet
Van Tonder C, Schoeman M, Carr J, Henning F, Bailly C, Moosa S.   +5 more
europepmc   +1 more source

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort. [PDF]

BMC Neurol
Alhammad RM, Alrehaili ML, Albulaihe HM, Aljereish SS, Alanazy MH.   +4 more
europepmc   +1 more source

Use of HSA^LR female mice as a model for the study of myotonic dystrophy type I. [PDF]

Lab Anim (NY)
Carrascosa-Sàez M, Colom-Rodrigo A, González-Martínez I, Pérez-Gómez R, García-Rey A, Piqueras-Losilla D, Ballestar A, Llamusí B, Cerro-Herreros E, Artero R.   +9 more
europepmc   +1 more source

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. [PDF]

Postep Psychiatr Neurol
Radziwonik-Frączyk W, Elert-Dobkowska E, Kubalska J, Stępniak I, Lipowska M, Potulska-Chromik A, Sułek A.   +6 more
europepmc   +1 more source

Alternative splicing dysregulation across tissue and therapeutic approaches in a mouse model of myotonic dystrophy type 1. [PDF]

Mol Ther Nucleic Acids
Hicks SM, Frias JA, Mishra SK, Scotti M, Muscato DR, Valero MC, Adams LM, Cleary JD, Nakamori M, Wang E, Berglund JA.   +10 more
europepmc   +1 more source

Genetic Susceptibility to Sport-Related Muscle Injuries: Insights from the Literature and Novel Gene Candidates. [PDF]

Int J Mol Sci
Leońska-Duniec A.
europepmc   +1 more source

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Functional consequences of chloride channel gene ( CLCN1) mutations causing myotonia congenita

Neurology, 2000
To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1 that cause myotonia congenita.Myotonia congenita is a genetic muscle disease associated with abnormalities in the skeletal muscle voltage-gated chloride (ClC-1) channel.
J, Zhang, S, Bendahhou, M C, Sanguinetti, L J, Ptácek   +3 more
openaire   +2 more sources

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

Journal of the Neurological Sciences, 2012
Myotonia congenita is an autosomal dominantly or recessively inherited muscle disorder causing impaired muscle relaxation and variable degrees of permanent muscle weakness, abnormal currents linked to the chloride channel gene (CLCN1) encoding the chloride channel on skeletal muscle membrane.
G. Ulzi, M. Lecchi, V. Sansone, E. Redaelli, E. Corti, D. Saccomanno, S. Pagliarani, S.P. Corti, F.M.B. Magri, M. Raimondi, G. D'Angelo, A. Modoni, N. Bresolin, G. Meola, E. Wanke, G.P. Comi, S. Lucchiari   +16 more
openaire   +3 more sources