Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families
Biomedical Papers, 2019 Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone.
Frantisek Cibulcik +6 more
doaj +1 more source
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
A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog
Journal of Veterinary Internal Medicine, 2007 Background:Heritable myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. The main clinical signs are skeletal muscle stiffness, especially after vigorous contraction, and muscle hypertrophy. Muscle stiffness may be enhanced by inactivity, and often is relieved by exercise.
Daniel F, Finnigan +3 more
openaire +2 more sources
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
Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis [PDF]
, 2014 Neck ventroflexion in cats has different causes; however, the most common is the hypokalemia associated with flaccid paralysis secondary to chronic renal failure.
Castillo, Victor A. +7 more
core +4 more sources
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
Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. [PDF]
, 2006 MinK-related peptide 2 (MiRP2) and Kv3.4 subunits assemble in skeletal muscle to create subthreshold, voltage-gated potassium channels. MiRP2 acts on Kv3.4 to shift the voltage dependence of activation, speed recovery from inactivation, suppress ...
Abbott, Geoffrey W +2 more
core +1 more source
Myotonia congenita in a Labrador Retriever with truncated CLCN1 [PDF]
, 2018 An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity.
Fischer, Andrea +5 more
core +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
Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.All the LGMDs molecularly confirmed in this study were the ones clinically suspected to be DMD/BMD. Here in this study, we have attempted to understand age at onset in the patients, could be a differentiating factor to distinguish DMD/BMD from other muscular dystrophies.
Priya Karthikeyan +3 more
wiley +1 more source