Results 71 to 80 of about 2,557 (149)
Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants
Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 602-614, March 2025.Abstract Objective While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII‐related disorders have previously been documented. Methods We present detailed clinical, immunocytochemical, and imaging data on eight additional patients from seven families with biallelic ...
Riley M. McCarty +28 more
wiley +1 more source
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 [PDF]
, 2012 Myotonic dystrophy type 2 (DM2) is a common adult onset muscular dystrophy caused by a dominantly transmitted (CCTG)( n ) expansion in intron 1 of the CNBP gene. In DM2 there is no obvious evidence for an intergenerational increase of expansion size, and
Novelli, G +31 more
core +1 more source
, 2023 Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Abdul Hanif Khan Yusof Khan (9462833) +12 more
core +1 more source
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
, 2021 Background:CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of
Shuizhen Zhou (6695027) +4 more
core +1 more source
, 2023 Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Abdul Hanif Khan Yusof Khan (9462833) +12 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
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
, 2013 Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out of them carrying mutations in CLCN1 gene and eight carry ...
Eraso, Pilar +3 more
core +1 more source