Results 71 to 80 of about 10,028,553 (168)
, 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
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Caloric Restriction Reprograms Adipose Tissues in Rhesus Monkeys
Aging Cell, Volume 24, Issue 12, December 2025.Here we show shared and depot‐specific adaptations to life‐long CR in subcutaneous and visceral adipose depots from advanced‐age male rhesus monkeys. Transcriptomics reveal differences between the depots, as well as shared and distinct CR‐responsive pathways.
Josef P. Clark +6 more
wiley +1 more source
BMC Neurology, 2019 Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs.
Takanori Hata +7 more
doaj +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
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The Concise Guide to PHARMACOLOGY 2025/26: Ion channels
British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +86 more
wiley +1 more source
Clinical and genetic characteristics of myotonia congenita in Chinese population
ChannelsMyotonia 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 +11 more
doaj +1 more source
, 2010 Sun C, Van Ghelue M, Tranebjaerg L, Thyssen F, Nilssen Ø, Torbergsen T. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. Myotonia is characterized by hyperexcitability of
Torbergsen, T +5 more
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Pharmacology Research &Perspectives, Volume 13, Issue 4, August 2025.ABSTRACT Chloride channels are involved in many cellular processes, including cell volume regulation, modulation of cell excitability, and electrolyte and water secretion. Mutations of these proteins are associated with heterogeneous diseases such as myotonia, cystic fibrosis, epilepsy, deafness, lysosomal storage disease, and various kinds of renal ...
Paola Laghetti +4 more
wiley +1 more source
Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia
Frontiers in Neurology, 2020 Objective: Myotonia congenita (MC) is a rare muscle disease characterized by sarcolemma over-excitability inducing skeletal muscle stiffness. It can be inherited either as an autosomal dominant (Thomsen's disease) or an autosomal recessive (Becker's ...
Concetta Altamura +10 more
doaj +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
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