Myotonia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Myotonia

MalaCards integrated aliases for Myotonia:

Name: Myotonia ⁵² ²⁸ ⁵ ³⁸ ⁷⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

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Summaries for Myotonia

NINDS: ⁵² Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.

MalaCards based summary: Myotonia is related to myotonia, potassium-aggravated and neuromyotonia and axonal neuropathy, autosomal recessive. An important gene associated with Myotonia is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and G-Beta Gamma Signaling. The drugs Mexiletine and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and occipital lobe, and related phenotypes are growth/size/body region and muscle

Wikipedia: ⁷⁵ Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed... more...

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Related Diseases for Myotonia

Diseases related to Myotonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 296)

#	Related Disease	Score	Top Affiliating Genes
1	myotonia, potassium-aggravated	33.3	SCN4A GH-LCR
2	neuromyotonia and axonal neuropathy, autosomal recessive	32.6	HINT1 CNBP
3	myotonia congenita	32.1	SCN4A PRRT2 MSTN LOC108644431 DMPK CNBP
4	myotonic dystrophy 1	32.0	MBNL1 DMPK DMD CNBP CLCN1
5	paramyotonia congenita of von eulenburg	32.0	SCN8A SCN4A GH-LCR CNBP CLCN1
6	batten-turner congenital myopathy	31.8	SCN4A DMD CLCN1
7	hyperkalemic periodic paralysis	31.8	SCN8A SCN4A GH-LCR CNBP CLCN1
8	myotonic disease	31.5	SCN4A MBNL1 DMPK CNBP CLCN1
9	myotonic dystrophy 2	31.2	SCN4A MBNL1 LOC108644431 DMPK CNBP CLCN1
10	hypokalemic periodic paralysis, type 1	30.9	SCN8A SCN7A SCN4A GH-LCR CLCN1
11	muscular dystrophy	30.6	MSTN HSPG2 DMPK DMD CLCN1
12	malignant hyperthermia	30.4	SCN7A SCN4A DMD
13	hypokalemic periodic paralysis, type 2	30.3	SCN7A SCN4A GH-LCR
14	isolated elevated serum creatine phosphokinase levels	30.2	SCN4A DMD CLCN1
15	congenital myasthenic syndrome	30.0	SCN4A HSPG2 DMD CLCN1
16	normokalemic periodic paralysis	30.0	SCN7A SCN4A
17	familial periodic paralysis	29.9	SCN4A CLCN1
18	muscular dystrophy, congenital, lmna-related	29.5	MSTN HSPG2 DMPK DMD
19	spinal and bulbar muscular atrophy, x-linked 1	29.4	MBNL1 DMPK CNBP
20	neuromuscular disease	29.4	SCN4A PMP22 MSTN MBNL1 DMPK DMD
21	brugada syndrome	29.3	SCN8A SCN7A SCN4A PSMC4 DMD CALM1
22	myopathy	29.2	SCN4A MSTN MBNL1 LOC108644431 GH-LCR DMPK
23	generalized epilepsy with febrile seizures plus	29.2	SCN8A SCN7A SCN4A PRRT2
24	episodic ataxia	29.1	SCN8A PRRT2 PMP22
25	muscular disease	28.8	MSTN MBNL1 DMPK DMD CNBP CLCN1
26	peripheral nervous system disease	28.3	SCN8A SCN4A PMP22 MBNL1 HINT1 DMPK
27	myotonia congenita, autosomal dominant	11.7
28	myotonia congenita, autosomal recessive	11.7
29	schwartz-jampel syndrome, type 1	11.6
30	richieri costa da silva syndrome	11.4
31	nondystrophic myotonia	11.2
32	cylindrical spirals myopathy	11.1
33	periodic paralysis	11.1
34	myopathy, granulovacuolar lobular, with electrical myotonia	10.9
35	myotonia with skeletal abnormalities and mental retardation	10.9
36	endomyocardial fibrosis	10.7
37	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.5
38	muscle hypertrophy	10.5
39	myasthenia gravis	10.4
40	cataract	10.4
41	muscular atrophy	10.3
42	hypokalemia	10.3
43	common cold	10.3
44	immature cataract	10.3	DMPK CNBP
45	hypothyroidism	10.2
46	diamond-blackfan anemia 3	10.2	SCN4A CALM1
47	tremor, hereditary essential, 6	10.2	SCN4A GH-LCR
48	seizures, benign familial neonatal, 1	10.1
49	myxedema	10.1
50	respiratory failure	10.1

Graphical network of the top 20 diseases related to Myotonia:

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Symptoms & Phenotypes for Myotonia

MGI Mouse Phenotypes related to Myotonia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.03	CALM1 CLCN1 CNBP DMD G6PC3 HINT1
2	muscle	MP:0005369	10	CLCN1 DMD DMPK HSPG2 MBNL1 MSTN
3	behavior/neurological	MP:0005386	9.73	CALM1 CLCN1 CNBP DMD HSPG2 MBNL1
4	skeleton	MP:0005390	9.28	CLCN1 CNBP DMD HSPG2 MBNL1 MSTN

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Drugs & Therapeutics for Myotonia

Drugs for Myotonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Mexiletine

Approved, Investigational

Phase 3

5370-01-4, 31828-71-4

4178

2

Lamotrigine

Approved, Investigational

Phase 3

84057-84-1

3878

3

Anti-Arrhythmia Agents

Phase 3

4

Sodium Channel Blockers

Phase 3

5

Diuretics, Potassium Sparing

Phase 3

6

Hormones

Phase 3

7

Antipsychotic Agents

Phase 3

8

Psychotropic Drugs

Phase 3

9

Calcium, Dietary

Phase 3

10

Anticonvulsants

Phase 3

11

calcium channel blockers

Phase 3

12

Calcium

Nutraceutical

Phase 3

7440-70-2

271

13

Lidocaine

Approved, Vet_approved

Phase 2

137-58-6

3676

14

Ranolazine

Approved, Investigational

Phase 1

142387-99-3, 95635-55-5

56959

Interventional clinical trials:

(show all 15)

#	Name	Status	NCT ID	Phase	Drugs
1	Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study	Completed	NCT01939561	Phase 3	Lamotrigine;Placebo
2	Efficacy and Safety of Mexiletine in Non-dystrophic Myotonias	Completed	NCT02336477	Phase 3	Mexiletine;placebo
3	A Phase III, Randomised, Double Blinded, Head-to-head, Single-site, Cross-over Trial of Lamotrigine Versus Mexiletine for Non-dystrophic Myotonias	Recruiting	NCT05017155	Phase 3	Mexiletine;Lamotrigine 25Mg Oral Tablet, Extended Release
4	Phase II Therapeutic Trial of Mexiletine in Non-Dystrophic Myotonia	Completed	NCT00832000	Phase 2	Mexiletine;Placebo
5	Combining N-of-1 Trials to Estimate Population Clinical and Cost-effectiveness of Drugs Using Bayesian Hierarchical Modeling. The Case of Mexiletine for Patients With Non- Dystrophic Myotonia.	Completed	NCT02045667	Phase 2	Mexiletine;Placebo
6	Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1	Completed	NCT02251457	Phase 1	Ranolazine
7	Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes	Unknown status	NCT00745238
8	Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia	Completed	NCT02161835
9	Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study	Completed	NCT00244413
10	Myotonic Dystrophy Family Registry	Recruiting	NCT02398786
11	Contractile Properties of Hypertrofic Muscles in Patients With Non-Dystrophic Myotonia	Recruiting	NCT04799366
12	Treatment of Myotonia - Lamotrigine Versus Namuscla	Recruiting	NCT05639257		Lamotrigine;Namuscla
13	An Observational Study to Describe the Long-term Safety and Effectiveness of Namuscla in the Symptomatic Management of Myotonia in Adult Patients With Non-dystrophic Myotonic Disorders	Recruiting	NCT04616807		Mexiletine
14	Using MRI to Quantify Fatty Infiltration in Muscle Tissue, and Compare it to Isometric Muscle Strength Measurements and (2) Use Questionnaires, Systemic Interview and Simple Myotonic Bed-side Tests to Describe the Phenotype.	Recruiting	NCT04808388
15	Myotonia, Muscle Stiffness and Elasticity in Neuromuscular Disorders	Active, not recruiting	NCT04411732

Search NIH Clinical Center for Myotonia

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Genetic Tests for Myotonia

Genetic tests related to Myotonia:

#	Genetic test	Affiliating Genes
1	Myotonia ²⁸

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Anatomical Context for Myotonia

Organs/tissues related to Myotonia:

MalaCards : Skeletal Muscle, Heart, Occipital Lobe, Brain, Thyroid, Lymph Node, Adrenal Cortex

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Publications for Myotonia

Articles related to Myotonia:

(show top 50) (show all 2436)

#	Title	Authors	PMID	Year
1	European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. ⁶²	van den Bersselaar LR...Snoeck MMJ	35971866	2022
2	Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study. ⁶²	Yuan JH...Takashima H	35907044	2022
3	Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review. ⁶²	Li Y...Huang X	35170402	2022
4	In silico versus functional characterization of genetic variants: lessons from muscle channelopathies. ⁶²	Vivekanandam V...Hanna MG	36382348	2022
5	Effectiveness and safety of mexiletine in patients at risk for (recurrent) ventricular arrhythmias: a systematic review. ⁶²	van der Ree MH...Postema PG	36036670	2022
6	Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory. ⁶²	Aleman M...Bellone RR	36150530	2022
7	Clinical score for early diagnosis of myotonic dystrophy type 2. ⁶²	Ivanovic V...Rakocevic-Stojanovic V	36401657	2022
8	[Dystrophia myotonica Type 1 associated with glioblastoma: a case report]. ⁶²	Katayama T...Mukasa A	36288964	2022
9	[Retrospective study on clinical manifestation, thigh MRI and electrophysiology characteristics of immune-mediated necrotizing myopathy]. ⁶²	Qiao LY...Pu C	36207969	2022
10	Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia. ⁶²	Ke Q...Cheng X	36050252	2022
11	Acute myotonic reaction during succinylcholine anaesthesia. ⁶²	Mohammed SR...Panday A	36192135	2022
12	[On the Conceptual History of Myotonia Congenita: The Contributions of Julius Thomsen and Adolph Seeligmüller]. ⁶²	Arendt C...Zierz S	34448176	2022
13	Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1. ⁶²	Oliwa A...Scottish Myotonic Dystrophy Consortium	36207221	2022
14	Remote assessment of myotonic dystrophy type 1: A feasibility study. ⁶²	Hamel J...Thornton CA	35426155	2022
15	Non-dystrophic myotonia: 2-year clinical and patient reported outcomes. ⁶²	Fullam TR...CINCH Consortium	35644941	2022
16	Clinical Features and Management of Seizure After Percutaneous Endoscopic Spine Surgery: A Retrospective Case Series Analysis. ⁶²	Zhang Y...Li Y	36041725	2022
17	[Rhabdomyolysis - the chamaeleon of the intensive care unit]. ⁶²	Gaik C...Arndt C	35896388	2022
18	Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. ⁶²	Meng YX...Zhang J	35866763	2022
19	Correction: Grip myotonia. ⁶²		35798500	2022
20	The effect of methocarbamol and mexiletine on murine muscle spindle function. ⁶²	Watkins B...Kroger S	35373353	2022
21	Myotonic dystrophy type 1 presenting with dyspnea: A case report. ⁶²	Jia YX...Li P	36051128	2022
22	A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment. ⁶²	Woelfel C...Olby NJ	35815860	2022
23	Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia. ⁶²	Lace B...Inashkina I	36381256	2022
24	Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1. ⁶²	Raymond K...Gagnon C	33135946	2022
25	Cutaneous findings in myotonic dystrophy. ⁶²	Kong HE...Pollack BP	35243403	2022
26	[Myotonia-rectified bone-conducted vibration vestibular evoked myogenic potential in normal adults]. ⁶²	Shen J...Yang J	35822357	2022
27	An unusual mutation in myotonia congenita. ⁶²	Chien SC...Su YJ	33531161	2022
28	Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes. ⁶²	Fouda MA...Ruben PC	35436004	2022
29	Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles. ⁶²	Suetterlin KJ...Tan SV	35339342	2022
30	Development of high-affinity nanobodies specific for NaV1.4 and NaV1.5 voltage-gated sodium channel isoforms. ⁶²	Srinivasan L...Gabelli SB	35202650	2022
31	Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy. ⁶²	Bulea TC...Mankodi A	35305880	2022
32	External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic Dystrophy Type 1. ⁶²	Igreja L...Santos E	35442941	2022
33	Laparoscopic cholecystectomy under total intravenous anaesthesia in a patient with myotonic dystrophy type 1 (Steinert's disease) - a case report. ⁶²	Karras G...Kiamiloglou B	35851789	2022
34	Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. ⁶²	Suetterlin K...Mannikko R	34529042	2022
35	A rare case report of severe cardiomyopathy associated with myotonic dystrophy type 2. ⁶²	Touma AM...Kamdar F	35350724	2022
36	Proof of concept of peptide-linked blockmiR-induced MBNL functional rescue in myotonic dystrophy type 1 mouse model. ⁶²	Overby SJ...Artero R	35282418	2022
37	Targeting Myotonic Dystrophy Type 1 with Metformin. ⁶²	Garcia-Puga M...Lopez de Munain A	35270043	2022
38	Myotonia in MuSK Myasthenia Gravis: A Unique Electrodiagnostic Finding. ⁶²	Skolka MP...Laughlin RS	35188919	2022
39	Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects. ⁶²	Orlov IE...Suspitsin EN	35026467	2022
40	Speech and language abnormalities in myotonic dystrophy: An overview. ⁶²	Hanoun S...Ghasemi M	34789418	2022
41	Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1. ⁶²	Fujino H...Matsumura T	35164706	2022
42	Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene. ⁶²	Al-Harbi TM...Hakonarson H	34636138	2022
43	Static Postural Control Deficits in Adults with Myotonic Dystrophy Type 1, Steinert Disease. ⁶²	Parent A...Pouliot-Laforte A	35001896	2022
44	Identification of DAPK1 as an autophagy-related biomarker for myotonic dystrophy type 1. ⁶²	Hu M...Li G	36338967	2022
45	Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease). ⁶²	Bayoumy AB...Tushuizen ME	35528770	2022
46	Nuclear Envelope Alterations in Myotonic Dystrophy Type 1 Patient-Derived Fibroblasts. ⁶²	Viegas D...Rebelo S	35008948	2022
47	Characteristics of myotonic dystrophy patients in the national registry of Japan. ⁶²	Sugimoto M...Takahashi MP	34923335	2022
48	Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis. ⁶²	Liao Q...Huang K	35483324	2022
49	Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing. ⁶²	Franck S...Sermon KD	35019138	2022
50	Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report. ⁶²	Nan H...Wu L	34996390	2022

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Genes for Myotonia

Genes related to Myotonia (3 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CLCN1	Chloride Voltage-Gated Channel 1	Protein Coding	455.15	Pathogenic ⁵ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)
2	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	429.59	Pathogenic ⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)
3	GH-LCR	Growth Hormone Locus Control Region	Functional Element	400	Pathogenic ⁵
4	DMPK	DM1 Protein Kinase	Protein Coding	25.24	GeneCards inferred via : Disorders Publications Gene name (show sections)
5	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	24.56	GeneCards inferred via : Disorders Publications Gene name (show sections)
6	CNBP	CCHC-Type Zinc Finger Nucleic Acid Binding Protein	Protein Coding	16.03	GeneCards inferred via : Disorders Publications (show sections)
7	SCN7A	Sodium Voltage-Gated Channel Alpha Subunit 7	Protein Coding	7.87	GeneCards inferred via : Publications (show sections)
8	HINT1	Histidine Triad Nucleotide Binding Protein 1	Protein Coding	7.73	GeneCards inferred via : Disorders (show sections)
9	DMD	Dystrophin	Protein Coding	7.54	GeneCards inferred via : Publications (show sections)
10	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	7.42	GeneCards inferred via : Publications (show sections)
11	CALM1	Calmodulin 1	Protein Coding	7.25	GeneCards inferred via : Publications (show sections)
12	G6PC3	Glucose-6-Phosphatase Catalytic Subunit 3	Protein Coding	7.25	GeneCards inferred via : Publications (show sections)
13	LOC108644431	Myotonic Dystrophy Type 2 Repeat Instability Region	Functional Element	7.25	GeneCards inferred via : Publications (show sections)
14	MSTN	Myostatin	Protein Coding	7.25	GeneCards inferred via : Publications (show sections)
15	PMP22	Peripheral Myelin Protein 22	Protein Coding	7.25	GeneCards inferred via : Publications (show sections)
16	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	7.25	GeneCards inferred via : Publications (show sections)
17	PRRT2	Proline Rich Transmembrane Protein 2	Protein Coding	7.25	GeneCards inferred via : Publications (show sections)
18	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	7.25	GeneCards inferred via : Publications (show sections)
19	MBNL1	Muscleblind Like Splicing Regulator 1	Protein Coding	7.04	GeneCards inferred via : Disorders (show sections)

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Variations for Myotonia

ClinVar genetic disease variations for Myotonia:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CLCN1	NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)	SNV	Pathogenic	374131	rs1057518917	GRCh37: 7:143048726-143048726 GRCh38: 7:143351633-143351633
2	CLCN1	NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	SNV	Pathogenic	17539	rs80356690	GRCh37: 7:143027881-143027881 GRCh38: 7:143330788-143330788
3	GH-LCR, SCN4A	NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)	SNV	Pathogenic	374058	rs1057518865	GRCh37: 17:62034803-62034803 GRCh38: 17:63957443-63957443
4	CLCN1	NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu)	SNV	Likely Pathogenic	523317	rs1554436510	GRCh37: 7:143028372-143028372 GRCh38: 7:143331279-143331279
5	CLCN1	NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs)	DUP	Likely Pathogenic	523318	rs1554438441	GRCh37: 7:143039099-143039100 GRCh38: 7:143342006-143342007
6	CLCN1	NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	SNV	Likely Pathogenic	209138	rs149729531	GRCh37: 7:143018525-143018525 GRCh38: 7:143321432-143321432
7	RYR1	NM_000540.3(RYR1):c.3202T>C (p.Cys1068Arg)	SNV	Uncertain Significance	373917	rs1057518768	GRCh37: 19:38958273-38958273 GRCh38: 19:38467633-38467633
8	OPA1-AS1, OPA1	NM_130837.3(OPA1):c.679-4G>T	SNV	Uncertain Significance	523555	rs757018661	GRCh37: 3:193343877-193343877 GRCh38: 3:193626088-193626088
9	SCN4A	NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SNV	Uncertain Significance	373945	rs121908552	GRCh37: 17:62041947-62041947 GRCh38: 17:63964587-63964587

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Expression for Myotonia

Search GEO for disease gene expression data for Myotonia.

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Pathways for Myotonia

Pathways related to Myotonia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.3	SCN8A SCN7A SCN4A CLCN1
2	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.25	SCN8A SCN7A SCN4A CALM1
3	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.17	SCN8A SCN7A SCN4A DMPK DMD CALM1
4	Neuroscience ³	12.09	SCN8A SCN7A SCN4A CALM1
5	Interaction between L1 and Ankyrins ⁶⁶	10.82	SCN8A SCN7A SCN4A
6	Muscular Dystrophies and Dystrophin-Glycoprotein Complex ⁶⁴	10.6	HSPG2 DMD
7	Phase 0 - rapid depolarisation ⁶⁶	10.46	SCN8A SCN7A SCN4A CALM1

Sources

GO Terms for Myotonia

Cellular components related to Myotonia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	axon	GO:0030424	9.65	SCN8A SCN7A SCN4A PRRT2 PRKAA1 DMD
2	voltage-gated sodium channel complex	GO:0001518	9.1	SCN8A SCN7A SCN4A

Biological processes related to Myotonia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of monoatomic ion transmembrane transport	GO:0034765	9.76	SCN8A SCN7A SCN4A CLCN1
2	neuronal action potential	GO:0019228	9.43	SCN8A SCN7A SCN4A
3	membrane depolarization during action potential	GO:0086010	9.1	SCN8A SCN7A SCN4A

Molecular functions related to Myotonia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated monoatomic ion channel activity	GO:0005244	9.7	SCN8A SCN7A SCN4A CLCN1
2	monoatomic cation channel activity	GO:0005261	9.43	SCN8A SCN7A SCN4A
3	voltage-gated sodium channel activity	GO:0005248	9.43	SCN8A SCN7A SCN4A
4	sodium channel activity	GO:0005272	8.8	SCN8A SCN7A SCN4A

Sources

Sources for Myotonia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MYT011 MIFTS: 42	Myotonia Categories: Muscle diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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