Results 41 to 50 of about 2,557 (149)
Moroccan consanguineous family with Becker myotonia and review
Annals of Indian Academy of Neurology, 2011 Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively.
Ilham Ratbi +5 more
doaj +1 more source
Miotonías no distróficas: aspectos clínicos y terapéuticos
Kranion, 2022 Las miotonías no distróficas son un grupo heterogéneo de canalopatías del músculo esquelético causadas por mutaciones en el gen de los canales de cloro (CLCN1) o de sodio (SCNA4) localizados en la membrana muscular.
Jorge García García
doaj +1 more source
Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita
, 2010 Myotonia congenita is a nondystrophic muscle disorder characterized by muscle stiffness and muscle hypertrophy. The disorder can be inherited in an autosomal-dominant (Thomsen disease) or autosomal-recessive (Becker disease) manner.
Sangiuolo, F +5 more
core +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Expanding African contributions to ClinVar through genetic counselor‐led variant curation
Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai +4 more
wiley +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
BMC Neurology, 2018 Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to ...
Jing Miao +5 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
BMC Medical Genetics, 2020 Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction.
Peter Sparber +6 more
doaj +1 more source
Domestic cats genotyped for the CLCN1 mutation associated with myotonia congenita.
, 2014 Domestic cats genotyped for the CLCN1 mutation associated with myotonia congenita.
Rob J. Daniel (652006) +8 more
core +1 more source