Results 101 to 110 of about 3,195 (191)
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7 [PDF]
, 2016 BackgroundThe reduced cost and improved efficiency of whole genome sequencing (WGS) is drastically improving the development of cats as biomedical models.
Alhaddad, Hasan +8 more
core +3 more sources
Reduced K+ build‐up in t‐tubules contributes to resistance of the diaphragm to myotonia
The Journal of Physiology, Volume 602, Issue 22, Page 6171-6188, 15 November 2024.Abstract figure legend Patients with myotonia congenita suffer from slowed muscle relaxation caused by hyperexcitability. The diaphragm is only mildly affected. Studies performed in two mouse models of myotonia congenita revealed that the reason the diaphragm is resistant to myotonia is reduced build‐up of K+ in small invaginations of muscle membrane ...
Jessica H. Myers +4 more
wiley +1 more source
Muscle &Nerve, Volume 70, Issue 2, Page 240-247, August 2024.Abstract Introduction/Aims Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder. MC is caused by variants in the voltage‐gated chloride channel 1 (CLCN1) gene, important for the normal ...
Nikolaos M. Marinakis +12 more
wiley +1 more source
Characterization of ClC‐1 chloride channels in zebrafish: a new model to study myotonia
The Journal of Physiology, Volume 602, Issue 16, Page 3975-3994, 15 August 2024.Abstract figure legend Zebrafish clc‐1a and clc‐1b orthologues were identified and cloned. mRNA and protein expression were detected mostly in muscle. Functional properties were studied in Xenopus oocytes, and they showed similitudes, but also some differences compared with the human counterpart. A crispant model was generated and studied analysing its
Héctor Gaitán‐Peñas +7 more
wiley +1 more source
In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]
, 2016 INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H +5 more
core
American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.Abstract American College of Medical Genetics and Genomics (ACMG) recommends offering Tier 3 carrier screening to pregnant patients and those planning a pregnancy for conditions with a carrier frequency of ≥1/200 (96 genes for autosomal recessive [AR] conditions).
Miska Kandolin +2 more
wiley +1 more source
Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated ...
Jie ZHONG +6 more
doaj
Фенотип-генотип корелации при пациенти с вродена миотония тип Бекер
Българска неврология, 2023 Вродената миотония e генетично невромускулно заболяване, което засяга скелетната мускулатура. Клинично се характеризира с нарушена релаксация след силна мускулна контракция (миотония). Дължи се на мутации в CLCN1-гена, кодиращ хлорни канали в мускулните
Stanislava Blagoeva +2 more
doaj
Българска неврология, 2023 Вродената миотония e заболяване, клинично характеризиращо се с нарушена релаксация след силна мускулна контракция (миотония). Дължи се на мутации в CLCN1-гена, кодиращ хлорни канали в мускулните клетки (7q35).
Stanislava Blagoeva +2 more
doaj