Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Myasthenic Syndrome, Congenital, 4c, Associated with...

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

Name: Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency ⁵⁷ ⁷³

Congenital Myasthenic Syndrome 4c ¹¹ ²⁸ ⁵ ¹⁴

Cms4c ⁵⁷ ¹¹ ⁷³

Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency ⁷³ ⁷¹

Congenital Myasthenic Syndrome Type Id ¹¹ ⁷³

Cms Id ¹¹ ⁷³

Cms1d ¹¹ ⁷³

Fim1 ¹¹ ⁷³

Congenital Myasthenic Syndrome with Facial Dysmorphism Associated with Acetylcholine Receptor Deficiency ⁷³

Congenital Myasthenic Syndrome Post-Synaptic Associated with Acetylcholine Receptor Deficiency ⁷³

Myasthenic Syndrome, Congenital, Type 4c, Associated with Acetylcholine Receptor Deficiency ³⁸

Congenital Myasthenic Syndrome 4c Associated with Acetylcholine Receptor Deficiency ¹¹

Myasthenia, Familial Infantile, 1, Formerly ⁵⁷

Myasthenic Syndrome, Congenital, Type Id ⁵⁷

Congenital Myasthenic Syndrome Type 1d ⁷³

Congenital Myasthenic Syndrome Type 1e ⁷³

Congenital Myasthenic Syndrome Type Ie ⁷³

Myasthenic Syndrome, Congenital, Ie ⁷¹

Myasthenia, Familial Infantile, 1 ⁷³

Familial Infantile Myasthenia 1 ¹¹

Cms Id, Formerly ⁵⁷

Cms1d, Formerly ⁵⁷

Fim1, Formerly ⁵⁷

Cms-Achrd ⁷³

Cms Ie ⁷³

Cms1e ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy
variable severity
milder cases have onset in childhood or adulthood with history of muscle weakness since infancy because fetal chrng exhibits phenotypic rescue
favorable response to cholinesterase inhibitors
gypsy groups demonstrate a founder effect (1267delg, )

HPO:

³⁰

myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency:
Onset and clinical course variable expressivity nonprogressive

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

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Summaries for Myasthenic Syndrome, Congenital, 4c, Associated with...

UniProtKB/Swiss-Prot: ⁷³ A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.

MalaCards based summary: Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency, also known as congenital myasthenic syndrome 4c, is related to myasthenic syndrome, congenital, 4a, slow-channel and congenital myasthenic syndrome associated with acetylcholine receptor deficiency, and has symptoms including ophthalmoparesis, muscle cramp and facial paresis. An important gene associated with Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Postsynaptic nicotinic acetylcholine receptors. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are ptosis and ophthalmoparesis

OMIM®: ⁵⁷ Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Patients with mutations in the CHRNE gene may have compensatory increased expression of the fetal subunit CHRNG (100730) and may respond to treatment with cholinergic agents, pyridostigmine, or amifampridine (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (608931) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

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Related Diseases for Myasthenic Syndrome, Congenital, 4c, Associated with...

Diseases related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)

#	Related Disease	Score	Top Affiliating Genes
1	myasthenic syndrome, congenital, 4a, slow-channel	32.7	CHRNE C17orf107
2	congenital myasthenic syndrome associated with acetylcholine receptor deficiency	32.3	RAPSN MUSK GFPT1 CHRNE CHAT C17orf107
3	myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	11.5
4	myasthenic syndrome, congenital, 12	10.3	RAPSN GFPT1
5	sclerosteosis 2	10.3	RAPSN MUSK
6	myasthenic syndrome, congenital, 21, presynaptic	10.3	GFPT1 CHAT
7	cenani-lenz syndactyly syndrome	10.2	RAPSN MUSK CHRNE
8	spastic paraplegia 3, autosomal dominant	10.2	SPG7 SPAST
9	hereditary spastic paraplegia 49	10.2	SPG7 SPAST
10	hereditary spastic paraplegia 30	10.2	SPG7 SPAST
11	spastic paraplegia 14, autosomal recessive	10.2	SPG7 SPAST
12	neonatal myasthenia gravis	10.2	RAPSN MUSK CHRNG
13	spastic paraplegia 6, autosomal dominant	10.2	SPG7 SPAST
14	spastic paraplegia 61, autosomal recessive	10.2	SPG7 SPAST
15	spastic paraplegia 79, autosomal recessive	10.2	SPG7 SPAST
16	spastic paraplegia 18, autosomal recessive	10.2	SPG7 SPAST
17	spastic paraplegia 11, autosomal recessive	10.2	SPG7 SPAST
18	spastic paraplegia 78, autosomal recessive	10.2	SPG7 SPAST
19	brain angioma	10.2	CHRNE CHRND
20	spastic paraplegia 55, autosomal recessive	10.2	SPG7 SPAST
21	spastic paraplegia 54, autosomal recessive	10.2	SPG7 SPAST
22	spastic paraplegia 8, autosomal dominant	10.1	SPG7 SPAST
23	spastic paraplegia 15, autosomal recessive	10.1	SPG7 SPAST
24	spastic paraplegia 43, autosomal recessive	10.1	SPG7 SPAST
25	spastic paraparesis	10.1	SPG7 SPAST
26	hereditary spastic paraplegia 35	10.1	SPG7 SPAST
27	myasthenia gravis	10.1	RAPSN MUSK CHRNG CHRNE
28	spastic paraplegia 45, autosomal recessive	10.1	SPG7 SPAST
29	ocular motility disease	10.1	SPG7 RAPSN MUSK CHRNE
30	spastic paraplegia 13, autosomal dominant	10.1	SPAST SPG7
31	myasthenic syndrome, congenital, 1b, fast-channel	10.1	CHRNE CHRND C17orf107
32	cystic lymphangioma	10.0	RAPSN CHRNG CHRND
33	primary optic atrophy	10.0	MYBPC1 ECEL1
34	multiple pterygium syndrome, lethal type	10.0	RAPSN CHRNG CHRND
35	fissured tongue	10.0	MYBPC1 ECEL1
36	congenital ptosis	10.0	RAPSN CHRNG CHRND
37	spastic paraplegia 42, autosomal dominant	10.0	SPG7 SPAST
38	leukemia	10.0
39	spastic paraplegia 20, autosomal recessive	10.0	SPG7 SPAST
40	myasthenic syndrome, congenital, 6, presynaptic	9.9	RAPSN CHRNE CHRND CHAT
41	arthrogryposis, distal, type 10	9.9	MYBPC1 GLE1
42	lethal congenital contracture syndrome 2	9.9	MYBPC1 GLE1
43	arthrogryposis, distal, type 5d	9.9	MYBPC1 ECEL1 CHRNG
44	spastic paraplegia 4, autosomal dominant	9.9	SPG7 SPAST
45	arthrogryposis, distal, type 7	9.8	MYBPC1 GLE1
46	lethal congenital contracture syndrome 1	9.8	MYBPC1 GLE1
47	paramyotonia congenita of von eulenburg	9.7	CHRNE CHRND CHRNB1
48	arthrogryposis, distal, type 5	9.7	MYBPC1 GLE1 ECEL1
49	tobacco addiction	9.7	CHRNG CHRND CHRNB1
50	myasthenic syndrome, congenital, 13	9.7	RAPSN CHRNE CHRND CHRNB1

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

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Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 4c, Associated with...

Human phenotypes related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

³⁰ (show all 26)

#	Description	HPO Frequency	HPO Source Accession
1	ptosis ³⁰	Very rare (1%)	HP:0000508
2	ophthalmoparesis ³⁰	Very rare (1%)	HP:0000597
3	emg: decremental response of compound muscle action potential to repetitive nerve stimulation ³⁰	Very rare (1%)	HP:0003403
4	dysarthria ³⁰		HP:0001260
5	dysphagia ³⁰		HP:0002015
6	facial palsy ³⁰		HP:0010628
7	high palate ³⁰		HP:0000218
8	mandibular prognathia ³⁰		HP:0000303
9	dental malocclusion ³⁰		HP:0000689
10	decreased muscle mass ³⁰		HP:0003199
11	skeletal muscle atrophy ³⁰		HP:0003202
12	strabismus ³⁰		HP:0000486
13	respiratory insufficiency due to muscle weakness ³⁰		HP:0002747
14	motor delay ³⁰		HP:0001270
15	easy fatigability ³⁰		HP:0003388
16	long face ³⁰		HP:0000276
17	decreased fetal movement ³⁰		HP:0001558
18	arthrogryposis multiplex congenita ³⁰		HP:0002804
19	feeding difficulties ³⁰		HP:0011968
20	gowers sign ³⁰		HP:0003391
21	weak cry ³⁰		HP:0001612
22	generalized hypotonia ³⁰		HP:0001290
23	fatigable weakness ³⁰		HP:0003473
24	muscle spasm ³⁰		HP:0003394
25	type 2 muscle fiber atrophy ³⁰		HP:0003554
26	decreased size of nerve terminals ³⁰		HP:0003443

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
ptosis
ophthalmoparesis

Abdomen Gastrointestinal:
dysphagia
poor feeding

Head And Neck Face:
long face
facial muscle weakness

Prenatal Manifestations Movement:
decreased fetal movements (in some patients)

Respiratory:
respiratory insufficiency (due to muscle weakness)

Voice:
dysarthria
weak cry

Muscle Soft Tissue:
hypotonia
easy fatigability
gowers sign
muscle cramps
muscle atrophy
more

Head And Neck Mouth:
malocclusion
high-arched palate
tongue weakness

Skeletal:
arthrogryposis multiplex in severe cases

Neurologic:
delayed motor development (due to muscle weakness)

Clinical features from OMIM®:

608931 (Updated 08-Dec-2022)

UMLS symptoms related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

ophthalmoparesis; muscle cramp; facial paresis

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.9	CHAT CHRNB1 CHRNE CHRNG CSF1R ECEL1
2	muscle	MP:0005369	9.65	ASL CHAT CHRNE CHRNG ECEL1 GFPT1
3	growth/size/body region	MP:0005378	9.44	ASL CHAT CHRND CHRNE CHRNG CSF1R

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Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 4c, Associated with...

Search Clinical Trials, NIH Clinical Center for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency

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Genetic Tests for Myasthenic Syndrome, Congenital, 4c, Associated with...

Genetic tests related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

#	Genetic test	Affiliating Genes
1	Congenital Myasthenic Syndrome 4c ²⁸	CHRNE GFPT1

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Anatomical Context for Myasthenic Syndrome, Congenital, 4c, Associated with...

Organs/tissues related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

MalaCards : Skeletal Muscle, Tongue

ODiseA: Skeletal Muscle

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Publications for Myasthenic Syndrome, Congenital, 4c, Associated with...

Articles related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

(show top 50) (show all 52)

#	Title	Authors	PMID	Year
1	The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. ⁵⁷ ⁵	Richard P...Hantai D	19064877	2008
2	Mutation history of the roma/gypsies. ⁵⁷ ⁵	Morar B...Kalaydjieva L	15322984	2004
3	Congenital myasthenic syndromes. ⁵⁷ ⁵	Hantai D...Eymard B	15367858	2004
4	Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. ⁵⁷ ⁵	Sieb JP...Steinlein OK	11030414	2000
5	A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. ⁵⁷ ⁵	Abicht A...Lochmuller H	10534268	1999
6	Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. ⁵⁷ ⁵	Croxen R...Beeson D	10514102	1999
7	Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. ⁵⁷ ⁵	Middleton L...Engel AG	10496269	1999
8	Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. ⁵⁷ ⁵	Nichols P...Beeson D	10211467	1999
9	Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency. ⁵⁷ ⁵	Sieb JP...Ries F	9443457	1998
10	Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. ⁵⁷ ⁵	Ohno K...Engel AG	9158150	1997
11	Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. ⁵⁷ ⁵	Christodoulou K...Middleton LT	9097970	1997
12	End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit. ⁵⁷ ⁵	Engel AG...Griggs RC	8957026	1996
13	Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. ⁵	Marinakis NM...Traeger-Synodinos J	34008892	2021
14	Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. ⁵⁷	Engel AG...Sine SM	25792100	2015
15	Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. ⁵	Alseth EH...Skeie GO	21305573	2011
16	Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. ⁵	Brugnoni R...Mantegazza R	20157724	2010
17	Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. ⁵	Milone M...Engel AG	19620612	2009
18	Unusual features in a boy with the rapsyn N88K mutation. ⁵	Skeie GO...Bindoff LA	17190963	2006
19	Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. ⁵	Cossins J...Beeson D	16945936	2006
20	Splicing abnormalities in congenital myasthenic syndromes. ⁵	Ohno K...Engel AG	16550914	2005
21	An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome. ⁵	Muller JS...Abicht A	16087917	2005
22	A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition. ⁵⁷	Cossins J...Beeson D	15471888	2004
23	A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. ⁵	Muller JS...Lochmuller H	15482960	2004
24	Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. ⁵	Ioos C...Estournet-Mathiaud B	15328566	2004
25	Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. ⁵	Banwell BL...Engel AG	15036330	2004
26	Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. ⁵	Yasaki E...Hantai D	14659409	2004
27	Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. ⁵	Muller JS...Abicht A	12796535	2003
28	Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. ⁵	Richard P...Hantai D	12807980	2003
29	Identification of pathogenic mutations in the human rapsyn gene. ⁵	Dunne V...Maselli RA	12730725	2003
30	Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations. ⁵⁷	Croxen R...Beeson D	12034803	2002
31	Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. ⁵	Ohno K...Milone M	11791205	2002
32	A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency. ⁵	Croxen R...Newsom-Davis J	9668239	1998
33	Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. ⁵	Ohno K...Engel AG	8755487	1996
34	Congenital myasthenia: further evidence of disease heterogeneity. ⁵⁷	Lecky BR...Prior C	3010100	1986
35	Inheritance of congenital myasthenia gravis in smooth fox terrier dogs. ⁵⁷	Miller LM...Hamilton MJ	6736601	1984
36	Development, Characterization, and in vivo Validation of a Humanized C6 Monoclonal Antibody that Inhibits the Membrane Attack Complex. ⁶²	Gytz Olesen H...Baas F	35551129	2022
37	Functional Independence Measure Subtypes among Inpatients with Subacute Stroke: Classification via Latent Class Analysis. ⁶²	Furuta H...Watanabe M	35528116	2022
38	Survival of stemless humeral head replacement in anatomic shoulder arthroplasty: a prospective study. ⁶²	Magosch P...Habermeyer P	33144222	2021
39	Cooperation between tropomyosin and α-actinin inhibits fimbrin association with actin filament networks in fission yeast. ⁶²	Christensen JR...Kovar DR	31180322	2019
40	Kluyveromyces marxianus developing ethanol tolerance during adaptive evolution with significant improvements of multiple pathways. ⁶²	Mo W...Lu H	30949239	2019
41	Mutational Mtc6p attenuates autophagy and improves secretory expression of heterologous proteins in Kluyveromyces marxianus. ⁶²	Liu Y...Lu H	30217195	2018
42	Investigation of the Fim1 putative pilus locus of Streptococcus equi subspecies equi. ⁶²	Steward KF...Waller AS	28749324	2017
43	Analysis of diarrheagenic potential of uropathogenic Escherichia coli isolates in Dhaka, Bangladesh. ⁶²	Khaleque M...Begum A	30951507	2017
44	Competition between Tropomyosin, Fimbrin, and ADF/Cofilin drives their sorting to distinct actin filament networks. ⁶²	Christensen JR...Kovar DR	28282023	2017
45	FIMBRIN1 is involved in lily pollen tube growth by stabilizing the actin fringe. ⁶²	Su H...Ren H	23150633	2012
46	α-Actinin and fimbrin cooperate with myosin II to organize actomyosin bundles during contractile-ring assembly. ⁶²	Laporte D...Wu JQ	22740629	2012
47	Actin filament bundling by fimbrin is important for endocytosis, cytokinesis, and polarization in fission yeast. ⁶²	Skau CT...Kovar DR	21642440	2011
48	Handgrip strength of the elderly after hip fracture repair correlates with functional outcome. ⁶²	Beloosesky Y...Salai M	20025431	2010
49	Interactions among a fimbrin, a capping protein, and an actin-depolymerizing factor in organization of the fission yeast actin cytoskeleton. ⁶²	Nakano K...Mabuchi I	11694585	2001
50	Roles of a fimbrin and an alpha-actinin-like protein in fission yeast cell polarization and cytokinesis. ⁶²	Wu JQ...Pringle JR	11294907	2001

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Genes for Myasthenic Syndrome, Congenital, 4c, Associated with...

Genes/enhancers related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency (6 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CHRNE	Cholinergic Receptor Nicotinic Epsilon Subunit	Protein Coding	1339.67	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	8755487 8957026 9097970 (more) 9158150 9443457 9668239 10211467 10496269 10514102 10534268 11030414 15322984 15367858 16087917 16550914 19064877
1	CHRNE::GH17J004898	TSS distance: +33.1kb Elite enhancer with elite association with CHRNE			Curated enhancer-disease association ²³ ( 27569544)	10211467 10382905
2	GFPT1	Glutamine--Fructose-6-Phosphate Transaminase 1	Protein Coding	503.78	Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴
3	RAPSN	Receptor Associated Protein Of The Synapse	Protein Coding	429.23	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	14659409 16945936 12730725 (more) 12807980 17190963 19620612 20157724 15482960 15328566 11791205 12796535 15036330 21305573
4	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	428.42	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
5	C17orf107	Chromosome 17 Open Reading Frame 107	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	9158150 10211467 11030414 (more) 16087917
6	ASL	Argininosuccinate Lyase	Protein Coding	400	Pathogenic ⁵	34008892
7	CHAT	Choline O-Acetyltransferase	Protein Coding	25	Likely pathogenic ⁵
8	CHRNG	Cholinergic Receptor Nicotinic Gamma Subunit	Protein Coding	6.11	DISEASES inferred ¹⁴
9	SPG7	SPG7 Matrix AAA Peptidase Subunit, Paraplegin	Protein Coding	5.31	DISEASES inferred ¹⁴
10	MT-TD	Mitochondrially Encoded TRNA-Asp (GAU/C)	RNA Gene	5.29	DISEASES inferred ¹⁴
11	SPAST	Spastin	Protein Coding	5.22	DISEASES inferred ¹⁴
12	CSF1R	Colony Stimulating Factor 1 Receptor	Protein Coding	4.92	DISEASES inferred ¹⁴
13	VIPAS39	VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog	Protein Coding	4.86	DISEASES inferred ¹⁴
14	SLC35A3	Solute Carrier Family 35 Member A3	Protein Coding	4.83	DISEASES inferred ¹⁴
15	ECEL1	Endothelin Converting Enzyme Like 1	Protein Coding	4.74	DISEASES inferred ¹⁴
16	MYBPC1	Myosin Binding Protein C1	Protein Coding	4.71	DISEASES inferred ¹⁴
17	GLE1	GLE1 RNA Export Mediator	Protein Coding	4.7	DISEASES inferred ¹⁴
18	CHRNB1	Cholinergic Receptor Nicotinic Beta 1 Subunit	Protein Coding	4.7	DISEASES inferred ¹⁴
19	CHRND	Cholinergic Receptor Nicotinic Delta Subunit	Protein Coding	4.68	DISEASES inferred ¹⁴

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Variations for Myasthenic Syndrome, Congenital, 4c, Associated with...

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

⁵ (show top 50) (show all 101)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CHRNE, C17orf107	NM_000080.4(CHRNE):c.344+1G>A	SNV	Pathogenic	18349	rs879253722	GRCh37: 17:4805511-4805511 GRCh38: 17:4902216-4902216
2	CHRNE	NM_000080.4(CHRNE):c.1030del (p.His344fs)	DEL	Pathogenic	18350	rs879253723	GRCh37: 17:4802765-4802765 GRCh38: 17:4899470-4899470
3	CHRNE	NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter)	INSERT	Pathogenic	18355	rs886037628	GRCh37: 17:4802550-4802551 GRCh38: 17:4899255-4899256
4	CHRNE, C17orf107	NM_000080.4(CHRNE):c.501-16G>A	SNV	Pathogenic	18362	rs879255563	GRCh37: 17:4804936-4804936 GRCh38: 17:4901641-4901641
5	CHRNE	NM_000080.4(CHRNE):c.1033-2A>T	SNV	Pathogenic	189225	rs786204773	GRCh37: 17:4802681-4802681 GRCh38: 17:4899386-4899386
6	CHRNE	NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs)	DEL	Pathogenic	623392	rs1567636493	GRCh37: 17:4802613-4802631 GRCh38: 17:4899318-4899336
7	ASL	NM_000048.4(ASL):c.1327del (p.Thr443fs)	DEL	Pathogenic	1299524		GRCh37: 7:65557831-65557831 GRCh38: 7:66092844-66092844
8	CHRNE, C17orf107	NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)	SNV	Pathogenic	18347	rs121909513	GRCh37: 17:4805606-4805606 GRCh38: 17:4902311-4902311
9	CHRNE	NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)	SNV	Pathogenic	18358	rs121909515	GRCh37: 17:4802804-4802804 GRCh38: 17:4899509-4899509
10	GFPT1	NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)	SNV	Pathogenic	381940	rs922548333	GRCh37: 2:69601212-69601212 GRCh38: 2:69374080-69374080
11	CHRNE, C17orf107	NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	DEL	Pathogenic	18357	rs753828284	GRCh37: 17:4804467-4804473 GRCh38: 17:4901172-4901178
12	CHRNE, C17orf107	NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)	SNV	Pathogenic	18345	rs121909514	GRCh37: 17:4805227-4805227 GRCh38: 17:4901932-4901932
13	CHRNE, C17orf107	NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)	SNV	Pathogenic	282036	rs144169073	GRCh37: 17:4806002-4806002 GRCh38: 17:4902707-4902707
14	CHRNE	NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)	DUP	Pathogenic Pathogenic	243032	rs773526895	GRCh37: 17:4802159-4802160 GRCh38: 17:4898864-4898865
15	MUSK	NM_005592.4(MUSK):c.79+2T>G	SNV	Pathogenic	211542	rs200783529	GRCh37: 9:113431265-113431265 GRCh38: 9:110668985-110668985
16	CHRNE, C17orf107	NM_000080.4(CHRNE):c.130dup (p.Glu44fs)	DUP	Pathogenic	243030	rs762368691	GRCh37: 17:4805974-4805975 GRCh38: 17:4902679-4902680
17	CHRNE	NM_000080.4(CHRNE):c.971del (p.Ile324fs)	DEL	Pathogenic	18348	rs879255562	GRCh37: 17:4802824-4802824 GRCh38: 17:4899529-4899529
18	CHRNE, C17orf107	NM_000080.4(CHRNE):c.-11-85C>T	SNV	Pathogenic	18353	rs748144899	GRCh37: 17:4806454-4806454 GRCh38: 17:4903159-4903159
19	CHRNE	NM_000080.4(CHRNE):c.1327del	DEL	Pathogenic Pathogenic	243031	rs763258280	GRCh37: 17:4802186-4802186 GRCh38: 17:4898891-4898891
20	RAPSN	NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	SNV	Pathogenic	8046	rs104894299	GRCh37: 11:47469631-47469631 GRCh38: 11:47448079-47448079
21	CHRNE	NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)	DUP	Pathogenic	694644	rs1597613479	GRCh37: 17:4802354-4802355 GRCh38: 17:4899059-4899060
22	CHRNE, C17orf107	NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)	SNV	Likely Pathogenic	18359	rs372635387	GRCh37: 17:4806322-4806322 GRCh38: 17:4903027-4903027
23	MUSK	NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)	SNV	Likely Pathogenic	211541	rs375737188	GRCh37: 9:113457698-113457698 GRCh38: 9:110695418-110695418
24	RAPSN	NM_005055.5(RAPSN):c.524A>G (p.Gln175Arg)	SNV	Likely Pathogenic	242500	rs863224912	GRCh37: 11:47469371-47469371 GRCh38: 11:47447819-47447819
25	CHRNE	NM_000080.4(CHRNE):c.1326+1G>A	SNV	Likely Pathogenic	488482	rs1430654625	GRCh37: 17:4802295-4802295 GRCh38: 17:4899000-4899000
26	CHRNE, C17orf107	NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)	SNV	Likely Pathogenic	18360	rs121909516	GRCh37: 17:4805239-4805239 GRCh38: 17:4901944-4901944
27	CHAT	NM_020549.5(CHAT):c.982del (p.Asp328fs)	DEL	Likely Pathogenic	813415	rs1590576560	GRCh37: 10:50835698-50835698 GRCh38: 10:49627652-49627652
28	CHAT	NM_020549.5(CHAT):c.1715C>A (p.Ser572Ter)	SNV	Likely Pathogenic	813416	rs753652169	GRCh37: 10:50863221-50863221 GRCh38: 10:49655175-49655175
29	CHRNB1	NM_000747.3(CHRNB1):c.669T>C (p.Asp223=)	SNV	Uncertain Significance	888587	rs1382103917	GRCh37: 17:7351956-7351956 GRCh38: 17:7448637-7448637
30	CHRNB1	NM_000747.3(CHRNB1):c.1348C>A (p.Gln450Lys)	SNV	Uncertain Significance	888631	rs746049604	GRCh37: 17:7359243-7359243 GRCh38: 17:7455924-7455924
31	CHRNB1	NM_000747.3(CHRNB1):c.481G>A (p.Asp161Asn)	SNV	Uncertain Significance	890189	rs766657460	GRCh37: 17:7350840-7350840 GRCh38: 17:7447521-7447521
32	CHRNB1	NM_000747.3(CHRNB1):c.*79G>A	SNV	Uncertain Significance	890333	rs2069957554	GRCh37: 17:7360121-7360121 GRCh38: 17:7456802-7456802
33	CHRNB1	NM_000747.3(CHRNB1):c.*120G>A	SNV	Uncertain Significance	890334	rs1340226289	GRCh37: 17:7360162-7360162 GRCh38: 17:7456843-7456843
34	CHRNB1	NM_000747.3(CHRNB1):c.*343C>T	SNV	Uncertain Significance	890897	rs537009813	GRCh37: 17:7360385-7360385 GRCh38: 17:7457066-7457066
35	CHRNB1	NM_000747.3(CHRNB1):c.*369C>T	SNV	Uncertain Significance	890898	rs552159525	GRCh37: 17:7360411-7360411 GRCh38: 17:7457092-7457092
36	CHRNB1	NM_000747.3(CHRNB1):c.*403C>G	SNV	Uncertain Significance	890899	rs1274500712	GRCh37: 17:7360445-7360445 GRCh38: 17:7457126-7457126
37	CHRNB1	NM_000747.3(CHRNB1):c.*512C>T	SNV	Uncertain Significance	890900	rs1244804394	GRCh37: 17:7360554-7360554 GRCh38: 17:7457235-7457235
38	CHRNB1	NM_000747.3(CHRNB1):c.*701G>A	SNV	Uncertain Significance	892131	rs564887658	GRCh37: 17:7360743-7360743 GRCh38: 17:7457424-7457424
39	CHRNB1	NM_000747.3(CHRNB1):c.*765G>A	SNV	Uncertain Significance	892132	rs776762809	GRCh37: 17:7360807-7360807 GRCh38: 17:7457488-7457488
40	CHRNB1	NM_000747.3(CHRNB1):c.*775A>C	SNV	Uncertain Significance	892133	rs761728841	GRCh37: 17:7360817-7360817 GRCh38: 17:7457498-7457498
41	CHRNB1	NM_000747.3(CHRNB1):c.*71C>T	SNV	Uncertain Significance	325110	rs886053405	GRCh37: 17:7360113-7360113 GRCh38: 17:7456794-7456794
42	CHRNB1	NM_000747.3(CHRNB1):c.-19C>T	SNV	Uncertain Significance	325072	rs550926134	GRCh37: 17:7348428-7348428 GRCh38: 17:7445109-7445109
43	CHRNB1	NM_000747.3(CHRNB1):c.*18C>T	SNV	Uncertain Significance	256770	rs79747991	GRCh37: 17:7360060-7360060 GRCh38: 17:7456741-7456741
44	CHRNB1	NM_000747.3(CHRNB1):c.*778C>T	SNV	Uncertain Significance	325116	rs556525486	GRCh37: 17:7360820-7360820 GRCh38: 17:7457501-7457501
45	CHRNB1	NM_000747.3(CHRNB1):c.680G>A (p.Gly227Glu)	SNV	Uncertain Significance	325092	rs886053399	GRCh37: 17:7351967-7351967 GRCh38: 17:7448648-7448648
46	CHRNB1	NM_000747.3(CHRNB1):c.1087C>A (p.Pro363Thr)	SNV	Uncertain Significance	325104	rs886053402	GRCh37: 17:7358645-7358645 GRCh38: 17:7455326-7455326
47	CHRNB1	NM_000747.3(CHRNB1):c.*31C>T	SNV	Uncertain Significance	325108	rs75282248	GRCh37: 17:7360073-7360073 GRCh38: 17:7456754-7456754
48	CHRNB1	NM_000747.3(CHRNB1):c.*136T>C	SNV	Uncertain Significance	325111	rs182995220	GRCh37: 17:7360178-7360178 GRCh38: 17:7456859-7456859
49	CHRNB1	NM_000747.3(CHRNB1):c.278C>G (p.Ala93Gly)	SNV	Uncertain Significance	325075	rs753646145	GRCh37: 17:7350186-7350186 GRCh38: 17:7446867-7446867
50	CHRNB1	NM_000747.3(CHRNB1):c.354-3C>T	SNV	Uncertain Significance	325077	rs886053392	GRCh37: 17:7350359-7350359 GRCh38: 17:7447040-7447040

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CHRNE	p.Arg167Leu	VAR_000290	rs121909514
2	CHRNE	p.Pro265Leu	VAR_000291	rs759226183
3	CHRNE	p.Arg331Trp	VAR_000294	rs121909515

Sources

Expression for Myasthenic Syndrome, Congenital, 4c, Associated with...

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency.

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Pathways for Myasthenic Syndrome, Congenital, 4c, Associated with...

Pathways related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	12.68	MUSK CSF1R CHRNG CHRNE CHRND CHRNB1
2	Postsynaptic nicotinic acetylcholine receptors ⁶⁶ Show member pathways Acetylcholine binding and downstream events ⁶⁶ Highly calcium permeable nicotinic acetylcholine receptors ⁶⁶ Highly calcium permeable postsynaptic nicotinic acetylcholine receptors ⁶⁶ Highly sodium permeable postsynaptic acetylcholine nicotinic receptors ⁶⁶ Presynaptic nicotinic acetylcholine receptors ⁶⁶	10.98	CHRNG CHRNE CHRND
3	Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	9.88	CHRNE CHRND CHRNB1

Sources

GO Terms for Myasthenic Syndrome, Congenital, 4c, Associated with...

Cellular components related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005887	10.39	CHRNB1 CHRND CHRNE CHRNG CSF1R ECEL1
2	plasma membrane	GO:0005886	10.39	CHRNB1 CHRND CHRNE CHRNG CSF1R ECEL1
3	neuron projection	GO:0043005	10.13	CHRNG CHRNE CHRND CHRNB1 CHAT
4	synapse	GO:0045202	10.1	CHAT CHRNB1 CHRND CHRNE CHRNG MUSK
5	cellular anatomical entity	GO:0110165	9.71	CHRNG CHRNE CHRND CHRNB1
6	postsynaptic membrane	GO:0045211	9.65	RAPSN MUSK CHRNG CHRNE CHRND CHRNB1
7	acetylcholine-gated channel complex	GO:0005892	9.63	CHRNE CHRND CHRNB1
8	postsynaptic specialization membrane	GO:0099634	9.56	RAPSN CHRND CHRNB1
9	obsolete integral component of postsynaptic specialization membrane	GO:0099060	9.46	CHRND CHRNB1
10	neuromuscular junction	GO:0031594	9.32	RAPSN MUSK CHRNE CHRND CHRNB1

Biological processes related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chemical synaptic transmission	GO:0007268	10.1	RAPSN CHRNG CHRNE CHRND CHRNB1
2	monoatomic ion transmembrane transport	GO:0034220	10.06	CHRNG CHRNE CHRND CHRNB1
3	regulation of membrane potential	GO:0042391	9.97	CHRNG CHRNE CHRND CHRNB1
4	excitatory postsynaptic potential	GO:0060079	9.92	CHRNB1 CHRND CHRNE CHRNG
5	muscle contraction	GO:0006936	9.86	CHRNG CHRNE CHRND CHRNB1
6	nervous system process	GO:0050877	9.76	CHRNG CHRNE CHRND CHRNB1
7	UDP-N-acetylglucosamine metabolic process	GO:0006047	9.73	SLC35A3 GFPT1
8	regulation of postsynaptic membrane potential	GO:0060078	9.26	CHRNG CHRNE CHRND CHRNB1
9	synaptic transmission, cholinergic	GO:0007271	9.23	RAPSN CHRNG CHRNE CHRNB1

Molecular functions related to Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	neurotransmitter receptor activity	GO:0030594	9.97	CHRNG CHRNE CHRND CHRNB1
2	transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	GO:1904315	9.86	CHRNB1 CHRND CHRNE CHRNG
3	transmembrane signaling receptor activity	GO:0004888	9.85	CHRNG CHRNE CHRND CHRNB1
4	acetylcholine receptor activity	GO:0015464	9.8	CHRNG CHRNE CHRNB1
5	excitatory extracellular ligand-gated monoatomic ion channel activity	GO:0005231	9.76	CHRNG CHRNE CHRND CHRNB1
6	acetylcholine binding	GO:0042166	9.73	CHRND CHRNB1
7	monoatomic ion channel activity	GO:0005216	9.71	CHRNG CHRNE CHRND CHRNB1
8	extracellular ligand-gated monoatomic ion channel activity	GO:0005230	9.26	CHRNG CHRNE CHRND CHRNB1
9	acetylcholine-gated monoatomic cation-selective channel activity	GO:0022848	9.23	CHRNG CHRNE CHRND CHRNB1

Sources

Sources for Myasthenic Syndrome, Congenital, 4c, Associated with...

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⁵⁶ OMIM via Orphanet

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⁶⁸ SNOMED-CT

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⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CMS4C MCID: MYS061 MIFTS: 46	Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency (CMS4C) Categories: Genetic diseases, Muscle diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency (CMS4C)

Aliases & Classifications for Myasthenic Syndrome, Congenital, 4c, Associated with...

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Expression for Myasthenic Syndrome, Congenital, 4c, Associated with...

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Sources for Myasthenic Syndrome, Congenital, 4c, Associated with...