Results 11 to 20 of about 2,738 (205)

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations. [PDF]

Ital J Pediatr
Background Myotonia congenita (MC) is mainly caused by variants in the CLCN1 Gene, which is characterized by having difficulty in relaxing the muscle after active contraction, known as myotonia. This study aims to investigate the clinical characteristics
Wang X, Wang S, Qi H, Wu B, He M, Zhang G.   +5 more
europepmc   +2 more sources

Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy. [PDF]

Eur J Neurol
Reassessment, including genetic testing, was performed in patients with a clinical diagnosis of hereditary polyneuropathy lacking genetic confirmation. A genetic or non‐genetic aetiology was identified in 44% of the patients. ABSTRACT Background Hereditary polyneuropathy is a disabling condition with a genetic aetiology.
Kodal LS, Duno M, Dysgaard T.
europepmc   +2 more sources

Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy. [PDF]

PLoS One
Equine myotonic dystrophy (eMD) is a rare neuromuscular disorder of undetermined origin marked by muscle hypertrophy and stiffness, dystrophic muscle histopathology, and myotonic discharges.
Valberg SJ, Williams ZJ, Ames EG, Mickelson JR, Nout-Lomas YS, Landolt G, Sanz M, Gardner K.   +7 more
europepmc   +2 more sources

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. [PDF]

Yale J Biol Med, 2013
Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia.We report the clinical presentations of two individuals with Myotonia Congenita (MC ...
Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB.   +5 more
europepmc   +2 more sources

RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation. [PDF]

Case Rep Neurol Med
Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Posa A, Kornhuber M.
europepmc   +2 more sources

Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia. [PDF]

Front Vet Sci
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump.
Eguchi GU, Palumbo MIP, Cerri FM, Basso RM, de Oliveira-Filho JP, Caramalac SM, Borges AS.   +6 more
europepmc   +2 more sources

ClC-1 chloride channels: state-of-the-art research and future challenges [PDF]

Frontiers in Cellular Neuroscience, 2015
The voltage-dependent ClC-1 chloride channel belongs to the CLC channel/transporter family. It is a homodimer comprising two individual pores which can operate independently or simultaneously according to two gating modes, the fast and the slow gate of ...
Altamura C, CONTE, Diana, DESAPHY, Jean Francois, IMBRICI, Paola, Mantegazza R, Pessia M   +5 more
core   +4 more sources

Clinical and genetic characteristics of myotonia congenita in Chinese population. [PDF]

Channels (Austin)
Myotonia 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).
He Y, Qiu Y, Xiong Y, Shen Y, Jiang K, Yi H, Huang P, Zhu Y, Zhu M, Zhou M, Hong D, Tan D.   +11 more
europepmc   +2 more sources

Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs. [PDF]

Animals (Basel)
(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin, and ...
Shelton GD, Mickelson JR, Friedenberg SG, Cullen JN, Graham K, Carpentier MC, Guo LT, Minor KM.   +7 more
europepmc   +2 more sources

RNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function. [PDF]

Ann Clin Transl Neurol
Abstract Objectives Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis‐splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM), is unknown.
Hartman JM, Ikegami K, Provenzano M, Bates K, Butler A, Jones AS, Berggren KN, Dekdebrun J, McKay MJ, Baldwin JN, Cornett KMD, Burns J, Kiefer M, Johnson NE, Hale MA, DMCRN Consortium.   +15 more
europepmc   +2 more sources