ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2011
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.Journal of neuromuscular diseases · 2021Pooled it
- Missense variants pathogenicity annotation from homologous proteins.Bioinformatics (Oxford, England) · 2025Article
- Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rareFrontiers in genetics · 2022Article
- Mutagenesis of the NaChBac sodium channel discloses a functional role for a conserved S6 asparagine.European biophysics journal : EBJ · 2017Article
- Multiple sodium channel isoforms mediate the pathological effects of Pacific ciguatoxin-1.Scientific reports · 2017Article
- Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.Frontiers in pharmacology · 2015Review
- Focal and abnormally persistent paralysis associated with congenital paramyotonia.BMJ case reports · 2014Article
- Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.The Journal of physiology · 2012Article
- A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.Neurology · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a 4-generation Turkish family with 10 affected members presenting with myotonia and potassium- and exercise-induced paralytic attacks. The clinical presentation was neither typical for the chloride channel myotonias Thomsen and Becker nor for the separate sodium channel myotonia entities potassium-aggravated myotonia, paramyotonia congenita, and hyperkalemic periodic paralysis. It is best described by a combination of potassium-aggravated myotonia and hyperkalemic periodic paralysis. We excluded exonic chloride channel mutations including CLCN1 exon deletion/duplication by MLPA. Instead we identified a novel p.N440K sodium channel mutation that is located at the inner end of segment S6 of repeat I. We discuss the genotype phenotype relation.
Indexed as
Identifiers
22106717PMC3235863W1508478997What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.