New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target
BioEssays, Volume 47, Issue 3, March 2025.Cellular senescence accumulates in the skeletal muscle of patients with myotonic dystrophy Type 1, leading to the production of senescence‐associated secretory phenotype (SASP) factors that have detrimental effects. Targeting these senescent cells with senotherapeutics could restore muscle homeostasis and slow disease progression.
Cécilia Légaré +3 more
wiley +1 more source
Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy [PDF]
, 2015 International audienceMyotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs containing expanded CUG repeats.
Allamand, Valérie +20 more
core +3 more sources
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis
Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.Sengers syndrome, characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis, is caused by mutations in the AGK gene. This study reports the successful diagnosis of Sengers syndrome using comprehensive genomic analysis, identifying both a known pathogenic AGK variant and a previously
Kohta Nakamura +15 more
wiley +1 more source
MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. [PDF]
, 2001 The subthreshold, voltage-gated potassium channel of skeletal muscle is shown to contain MinK-related peptide 2 (MiRP2) and the pore-forming subunit Kv3.4.
Abbott, GW +5 more
core
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
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis [PDF]
, 2014 Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on
Acevedo-Arozena, Abraham +28 more
core +2 more sources
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
Global gene expression in neuroendocrine tumors from patients with the MEN1 syndrome [PDF]
, 2005 Background Multiple Endocrine Neoplasia type 1 (MEN1, OMIM 131100) is an autosomal dominant disorder characterized by endocrine tumors of the parathyroids, pancreatic islets and pituitary.
William G Dilley +5 more
core +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