Results 11 to 20 of about 2,733 (194)

Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene [PDF]

The Turkish Journal of Pediatrics, 2020
Background and Objectives. Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease).
Nezir Özgün, Hasan Taşlıdere
doaj   +3 more sources

Massive Genomic and Transcriptomic Changes Within a Young Inversion Polymorphism in the Absence of Degeneration. [PDF]

Mol Ecol
ABSTRACT Chromosomal inversion polymorphisms have been linked to the evolution of phenotypic variation, environmental adaptation, and speciation. The genome of the white‐throated sparrow (Zonotrichia albicollis) contains two exceptionally large chromosomal polymorphisms.
Baran NM, Jeong H, Maney DL, Yi SV.
europepmc   +2 more sources

Commitment to Myogenic Differentiation Significantly Aggravates the RNA Phenotype in Myotonic Dystrophy Type 1. [PDF]

Neuropathol Appl Neurobiol
DM1 myoblasts show mild defects, but RNA toxicity intensifies upon differentiation, where broad gene‐expression changes and escalating MBNL1‐driven splicing defects disrupt muscle‐specific pathways, underscoring a key vulnerability at the transition from myogenic precursor cells to myofibres in patients. ABSTRACT Aims Myotonic dystrophy type 1 (DM1) is
Ripken L, van den Broek WJAA, van Cruchten RTP, Smits JGA, Riepe TV, 't Hoen PAC, Wansink DG.   +6 more
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

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression [PDF]

Human Mutation, 2004
Two novel mutations of the human CLCN1 chloride channel gene, c.592C>G (p.L198V) and c.2255A>G (p.K752R), are described, occurring coincidentally in the one myotonic patient. These individual mutations and a construct with both mutations in the one cDNA were transcribed and expressed in Xenopus oocytes where channel gating parameters were extracted ...
Simpson, B., Height, T., Rychkov, G., Nowak, K., Laing, N., Hughes, B., Bretag, A.   +6 more
openaire   +6 more sources

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype [PDF]

European Journal of Human Genetics, 2004
Mutations in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC). The recessive form, Becker's myotonia, is believed to be caused by two loss-of-function mutations, whereas the dominant form, Thomsen's myotonia, is assumed to be a consequence of a dominant-negative effect. However,
Dunø, Morten, Colding-Jørgensen, Eskild, Grunnet, Morten, Jespersen, Thomas, Vissing, John, Schwartz, Marianne   +5 more
openaire   +5 more sources

Co-Opting MBNL-Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy. [PDF]

Ann Neurol
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Carrell ST, Carrell EM, Giovenco R, Davidson BL.   +3 more
europepmc   +2 more sources

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. [PDF]

Yale J Biol Med, 2013
Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia.We report the clinical presentations of two individuals with Myotonia Congenita (MC ...
Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB.   +5 more
europepmc   +2 more sources

Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy. [PDF]

Eur J Neurol
Reassessment, including genetic testing, was performed in patients with a clinical diagnosis of hereditary polyneuropathy lacking genetic confirmation. A genetic or non‐genetic aetiology was identified in 44% of the patients. ABSTRACT Background Hereditary polyneuropathy is a disabling condition with a genetic aetiology.
Kodal LS, Duno M, Dysgaard T.
europepmc   +2 more sources

Myotonia caused by mutations in the muscle chloride channel geneCLCN1 [PDF]

Human Mutation, 2002
Pure non-syndromic, non-dystrophic myotonia in humans is caused by mutations in the genes coding for the skeletal muscle sodium channel (SCN5A) or the skeletal muscle chloride channel (CLCN1) with similar phenotypes. Chloride-channel myotonia can be dominant (Thomsen-type myotonia) or recessive (Becker-type myotonia).
Michael Pusch
openaire   +6 more sources