Results 1 to 10 of about 2,229 (124)

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations [PDF]

Italian Journal of Pediatrics
Background Myotonia congenita (MC) is mainly caused by variants in the CLCN1 Gene, which is characterized by having difficulty in relaxing the muscle after active contraction, known as myotonia. This study aims to investigate the clinical characteristics
Xin Wang, Shangyu Wang, Hongdan Qi, Bing Wu, Mingying He, Gang Zhang   +5 more
doaj   +2 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

Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype [PDF]

Frontiers in Endocrinology
BackgroundThe presence of multiple rare Mendelian disorders in a single patient may mask clinical recognition when phenotypes overlap. We describe a patient with longstanding myotonia congenita due to a CLCN1 variant in whom an incidental discovery of ...
Noha N. Mukhtar, Deema Alturki, Allianah Benito, Balgees Alghamdi, Ali Alshehri, Ali S. Alzahrani, Ali S. Alzahrani   +6 more
doaj   +2 more sources

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1). [PDF]

ChemMedChem
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Richagneux C, Granzhan A.
europepmc   +2 more sources

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

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   +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

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

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

Clinical and genetic characteristics of myotonia congenita in Chinese population [PDF]

Channels
Myotonia congenita (MC) is a rare hereditary muscle disease caused by variants in the CLCN1 gene. Currently, the correlation of phenotype-genotype is still uncertain between dominant-type Thomsen (TMC) and recessive-type Becker (BMC).
Yuting He, Yusen Qiu, Ying Xiong, Yu Shen, Kaiyan Jiang, Hancun Yi, Pengcheng Huang, Yu Zhu, Min Zhu, Meihong Zhou, Daojun Hong, Dandan Tan   +11 more
doaj   +2 more sources