MCID: CNG464
MIFTS: 50

Congenital Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Congenital Myopathy

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Aliases & Descriptions for Congenital Myopathy:

Name: Congenital Myopathy 11 48 24 49 13
Myopathy - Congenital 49 27
Batten Turner Congenital Myopathy 48
 
Myopathy, Congenital 50
Myopathy Congenital 48
Myotonia Congenita 68

Characteristics:


Classifications:



External Ids:

Disease Ontology11 DOID:0080100
ICD1030 G71.2

Summaries for Congenital Myopathy

About this section
NINDS:49 A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up.

MalaCards based summary: Congenital Myopathy, also known as myopathy - congenital, is related to muscular dystrophy, congenital and muscular dystrophy, rigid spine, 1, and has symptoms including abnormality of the nervous system and myopathy. An important gene associated with Congenital Myopathy is ITGA7 (Integrin Subunit Alpha 7), and among its related pathways are Reelin Pathway (Cajal-Retzius cells) and Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include skeletal muscle, testes and heart, and related mouse phenotypes are skeleton and vision/eye.

Wikipedia:71 Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily... more...

Related Diseases for Congenital Myopathy

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Diseases in the Myopathy family:

congenital myopathy Gne-Related Myopathy
Benign Autosomal Dominant Myopathy Selenon-Related Myopathy

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

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, congenital30.2COL6A3, DMD, ITGA7
2muscular dystrophy, rigid spine, 129.4ACTA1, DMD, MYH7
3cylindrical spirals myopathy25.7ACTA1, CFL2, CNTN1, COL6A3, HRAS, ITGA7
4congenital myopathy, paradas type11.8
5benign samaritan congenital myopathy11.8
6congenital myopathy with myasthenic-like onset11.8
7myopathy, congenital, compton-north11.5
8native american myopathy11.5
9nemaline myopathy 3, autosomal dominant or recessive11.5
10congenital fiber-type disproportion11.5
11costello syndrome11.4
12cap myopathy11.3
13central core disease11.2
14myopathy, areflexia, respiratory distress, and dysphagia, early-onset11.1
15myopathy, centronuclear11.1
16ullrich congenital muscular dystrophy 111.0
17myopathy, tubular aggregate, 111.0
18malignant hyperthermia susceptibility 111.0
19minicore myopathy with external ophthalmoplegia11.0
20muscular dystrophy, congenital, due to itga7 deficiency11.0
21myopathy, centronuclear, 411.0
22myopathy, myosin storage, autosomal dominant10.8
23bethlem myopathy 110.8
24becker muscular dystrophy10.8
25centronuclear myopathy 510.6
26nemaline myopathy 1010.6
27ullrich congenital muscular dystrophy 210.6
28ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.6
29immunodeficiency 910.6
30myopathy, tubular aggregate, 210.6
31nemaline myopathy 7, autosomal recessive10.6
32tpm3-related congenital fiber-type disproportion10.6
33actin-accumulation myopathy10.6
34myopathy10.5
35myelodysplastic myeloproliferative cancer10.3COL6A3, RYR1
36nemaline myopathy10.3
37stormorken syndrome10.3ACTA1, RYR1
38monocular esotropia10.3RYR1, SCN4A
39orofaciodigital syndrome10.2RYR1, SCN4A
40medium-chain acyl-coenzyme a dehydrogenase deficiency10.2RYR1, SCN4A
41reducing body myopathy10.2
42zebra body myopathy10.2
43unverricht-lundborg syndrome10.1MYH7, RYR1
44muscular dystrophy-dystroglycanopathy , type b, 410.1DMD, ITGA7
45megalocytic interstitial nephritis10.1ACTA1, NEB
46dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.0ACTA1, NEB
47x-linked intellectual disability - short stature - obesity10.0ACTA1, NEB
48headache10.0ACTA1, NEB
49myopathy, congenital, with fiber-type disproportion10.0ACTA1, MYH7, RYR1
50vallecula cancer9.9DMD, RYR1, SCN4A

Graphical network of the top 20 diseases related to Congenital Myopathy:



Diseases related to congenital myopathy

Symptoms & Phenotypes for Congenital Myopathy

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Human phenotypes related to Congenital Myopathy:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system64 HP:0000707
2 myopathy64 HP:0003198

MGI Mouse Phenotypes related to Congenital Myopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.0ACTA1, COL6A3, DMD, HRAS, ITGA7, NEB
2MP:00053917.6ACTA1, CNTN1, COL6A3, DMD, MEGF10, NEB
3MP:00053867.5ACTA1, CFL2, CNTN1, DMD, HRAS, ITGA7
4MP:00107687.5ACTA1, CFL2, CNTN1, DMD, HRAS, ITGA7
5MP:00053786.9ACTA1, CFL2, CNTN1, COL6A3, DMD, HRAS
6MP:00053696.8ACTA1, CFL2, CNTN1, COL6A3, DMD, ITGA7

Drugs & Therapeutics for Congenital Myopathy

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

(show top 50)    (show all 79)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 4, Phase 3, Phase 277651-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2
BezafibrateapprovedPhase 41441859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
3Neurotransmitter AgentsPhase 4, Phase 3, Phase 217734
4Botulinum Toxins, Type APhase 4, Phase 3, Phase 2630
5Cholinergic AgentsPhase 4, Phase 3, Phase 23846
6onabotulinumtoxinAPhase 4, Phase 3, Phase 2626
7Anticholesteremic AgentsPhase 4, Phase 21983
8incobotulinumtoxinAPhase 4, Phase 3, Phase 2635
9Clofibric AcidPhase 421882-09-7
10abobotulinumtoxinAPhase 4, Phase 3, Phase 2626
11Hypolipidemic AgentsPhase 4, Phase 22721
12AntimetabolitesPhase 4, Phase 211774
13Lipid Regulating AgentsPhase 4, Phase 22702
14
MexiletineapprovedPhase 3, Phase 22031828-71-44178
Synonyms:
(+-)-1-(2,6-Dimethylphenoxy)propan-2-amine
(+-)-1-(2,6-dimethylphenoxy)propan-2-amine
(2RS)-1-(2,6-dimethylphenoxy)-2-aminopropane
1-(2',6'-Dimethylphenoxy)-2-aminopropane
1-(2,6-Dimethylphenoxy)-2-propanamine
1-(2,6-dimethylphenoxy)propan-2-amine
1-Methyl-2-(2,6-xylyloxy)ethanamine
1-Methyl-2-(2,6-xylyloxy)ethylamine
1-methyl-2-(2,6-xylyloxy)ethanamine
2-(2-Aminopropoxy)-1,3-DiMethyl-Benzene Hydrochloride
2-(2-aminopropoxy)-1,3-dimethylbenzene
31828-71-4
5370-01-4 (hydrochloride)
AB00053683
AC1L1HL7
AC1Q2BC5
AC1Q2BC6
BPBio1_000026
BRD-A64092382-003-04-3
BRN 2092205
BSPBio_000022
BSPBio_002254
C07220
CHEBI:115958
CHEBI:6916
CHEMBL558
CID4178
D08215
DB00379
DivK1c_000834
EINECS 250-825-7
I01-6374
IDI1_000834
KBio1_000834
KBio2_002082
KBio2_004650
 
KBio2_007218
KBio3_001474
KBioGR_001270
KBioSS_002082
KO-1173
KO1173
KOE-1173
LS-68257
Lopac0_000784
Mexiletene
Mexiletina
Mexiletina [INN-Spanish]
Mexiletine
Mexiletine (INN)
Mexiletine HCL
Mexiletine [INN:BAN]
Mexiletinum
Mexiletinum [INN-Latin]
Mexilitine
Mexilétine
Mexitil
Mexityl
MolPort-001-790-944
NCGC00015659-04
NCGC00162253-01
NCGC00162253-02
NINDS_000834
Prestwick0_000241
Prestwick1_000241
Prestwick2_000241
Prestwick3_000241
SBB070242
SPBio_002241
Spectrum3_000727
Spectrum4_000795
Spectrum5_001279
Spectrum_001602
UNII-1U511HHV4Z
15
Lamotrigineapproved, investigationalPhase 318384057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
16
DichlorphenamideapprovedPhase 32120-97-83038
Synonyms:
1,3-Disulfamoyl-4,5-dichlorobenzene
1,3-Disulfamyl-4,5-dichlorobenzene
1,3-disulfamoyl-4,5-dichlorobenzene
120-97-8
2pou
3,4-Dichloro-5-sulfamylbenzenesulfonamide
4,5-DICHLOROBENZENE-1,3-disulfonamide
4,5-Dichloro-1,3-benzenedisulfonamide
4,5-Dichloro-1,3-disulfamoylbenzene
4,5-Dichloro-benzene-1,3-disulfonic acid diamide
4,5-Dichloro-m-benzenedisulfonamide
4,5-Dicholorobenzene-1,3-disulfonamide
4,5-dichloro-1,3-disulfamoylbenzene
4,5-dichloro-m-benzenedisulfonamide
4,5-dichlorobenzene-1,3-disulfonamide
AC1L1F18
Antidrasi
BPBio1_000745
BRD-K71499074-001-03-8
BRN 2703329
BSPBio_000677
Barastonin
C07459
C6H6Cl2N2O4S2
CAS-120-97-8
CB 8000
CHEBI:101085
CHEMBL17
CID3038
D004005
D00518
DB01144
DB07948
Daranide
Daranide (TN)
Dasanide
Dichlofenamide
Dichlorophenamide
Dichlorophenamide (DCP)
 
Dichlorphenamid
Dichlorphenamide
Dichlorphenamide (USP)
Dichlorphenamide [BAN]
Diclofenamid
Diclofenamida
Diclofenamida [INN-Spanish]
Diclofenamide
Diclofenamide (JP15/INN)
Diclofenamidum
Diclofenamidum [INN-Latin]
EINECS 204-440-6
FT-0084528
Glafco
Glajust
Glaucol
Glauconide
Glaumid
HMS1570B19
HSDB 3267
I7A
LS-30043
Llorens Brand of Dichlorphenamide
MLS002154010
Merck Brand of Dichlorphenamide
MolPort-004-285-635
NCGC00016371-01
NCGC00016371-02
Oratrol
Prestwick0_000809
Prestwick1_000809
Prestwick2_000809
Prestwick3_000809
Prestwick_1071
S2177_Selleck
SBB058142
SMR001233338
SPBio_002598
UNII-VVJ6673MHY
ZINC00896918
dichlorphenamide
17Peripheral Nervous System AgentsPhase 3, Phase 222776
18Anti-Arrhythmia AgentsPhase 3, Phase 22969
19AnestheticsPhase 39001
20Botulinum ToxinsPhase 3, Phase 2669
21Excitatory Amino AcidsPhase 31297
22Neuromuscular AgentsPhase 3, Phase 21129
23calcium channel blockersPhase 31940
24Diuretics, Potassium SparingPhase 3, Phase 21827
25Excitatory Amino Acid AntagonistsPhase 31282
26Carbonic Anhydrase InhibitorsPhase 3179
27Sodium Channel BlockersPhase 3, Phase 21515
28AnticonvulsantsPhase 32620
29Calcium, DietaryPhase 3, Phase 25525
30
Ranolazineapproved, investigationalPhase 278142387-99-3, 95635-55-556959
Synonyms:
( -)-Ranolazine
(-)-Ranolazine
142387-99-3
95635-55-5
AC-1673
AC1L1M17
AC1Q5LYD
BRD-A97674275-001-01-9
BSPBio_002276
CHEMBL1404
CID56959
CVT-303
D05700
DB00243
HMS1922F16
HMS2090L09
HMS2093D21
I01-2008
I06-0160
KEG-1295
LS-187267
Latixa
Lopac0_001062
 
MLS002154149
MolPort-003-666-653
N-(2,6-dimethylphenyl)-2-[4-[2-hydroxy-3-(2-methoxyphenoxy)propyl]piperazin-1-yl]acetamide
NCGC00015897-05
NCGC00095177-01
NCGC00095177-02
NCGC00095177-03
RAN D
RANOLAZINE
RS-43285
RS-43285-003
Ran4
Ranexa
Ranexa (TN)
Ranexa, Ranolazine
Ranolazine (USAN/INN)
Ranolazine 2HCl
Ranolazine Dihydrochloride
Ranolazine dihydrochloride
S1799_Selleck
SMR000857382
SPECTRUM1505366
UNII-A6IEZ5M406
ranolazine
31
chenodeoxycholic acidapprovedPhase 232474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
32
AcetylcysteineapprovedPhase 1, Phase 2316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
33
Resveratrolexperimental, investigationalPhase 2112501-36-0, 955365-80-724856436, 445154
Synonyms:
(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol
(E)-5-(p-Hydroxystyryl)resorcinol
(E)-5-[2-(4-Hydroxyphenyl)ethenyl]-1,3-benzenediol
(E)-5-[2-(4-hydroxyphenyl)ethenyl]-1,3-benzendiol
(E)-resveratrol
 
3,4',5-Stilbenetriol
3,4',5-Trihydroxystilbene
3,4',5-trihydroxy-stilbene
MK-1775
trans-3,4',5 - Trihydroxystilbene
trans-3,4',5-trihydroxystilbene
trans-Resveratrol
34AnalgesicsPhase 211287
35Pharmaceutical SolutionsPhase 27793
36HemagglutininsPhase 2118
37Gastrointestinal AgentsPhase 28109
38Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21956
39LaxativesPhase 2520
40Platelet Aggregation InhibitorsPhase 22419
41Protective AgentsPhase 2, Phase 17190
42Antirheumatic AgentsPhase 210627
43Analgesics, Non-NarcoticPhase 26260
44CatharticsPhase 2520
45Anti-Inflammatory AgentsPhase 210355
46Anti-Inflammatory Agents, Non-SteroidalPhase 24295
47Atorvastatin CalciumPhase 2743134523-03-8
48AntioxidantsPhase 2, Phase 12928
49Antineoplastic Agents, PhytogenicPhase 25420
50N-monoacetylcystinePhase 1, Phase 2316

Interventional clinical trials:

(show top 50)    (show all 79)
idNameStatusNCT IDPhase
1The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)CompletedNCT01527318Phase 4
2Post Marketing Surveillance Study of DysportCompletedNCT00210431Phase 4
3Effects of Functional Electrical Stimulation on Gait in Children With Cerebral PalsyNot yet recruitingNCT02462018Phase 4
4Mexiletine and Non Dystrophic MyotoniasCompletedNCT02336477Phase 3
5Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel DisordersCompletedNCT00004802Phase 3
6Lamotrigine as Treatment of MyotoniaCompletedNCT01939561Phase 3
7Efficacy Study of Selective Tibial Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic PatientsCompletedNCT00825097Phase 3
8Clinical Trial of a Serious Game for Individuals With SCI/DRecruitingNCT02341950Phase 3
9Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic ParaplegiaActive, not recruitingNCT02604186Phase 2, Phase 3
10Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular DisordersTerminatedNCT00839033Phase 3
11Treatment of TNNT1-Myopathy With L-Tyrosine.Unknown statusNCT02035501Phase 2
12Low Protein Diet in Patients With Collagen VI Related MyopathiesCompletedNCT01438788Phase 2
13Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral PalsyCompletedNCT02188277Phase 2
14Effects of Power Mobility on Young Children With Severe Motor ImpairmentsCompletedNCT01028833Phase 2
15Study of Ranolazine in Myotonia Congenita and Paramyotonia CongenitaRecruitingNCT02251457Phase 2
16Study of Tideglusib in Adolescent and Adult Patients With Myotonic DystrophyRecruitingNCT02858908Phase 2
17Pediatric Radio Frequency Coils GenericRecruitingNCT01633866Phase 1, Phase 2
18Mexiletine for Muscle Cramps in Charcot Marie Tooth DiseaseActive, not recruitingNCT02561702Phase 2
19Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5Active, not recruitingNCT02314208Phase 2
20Efficacy of Sialic Acid GNE Related ThrombocytopeniaEnrolling by invitationNCT02845609Phase 2
21Antioxidant Therapy in RYR1-Related Congenital MyopathySuspendedNCT02362425Phase 1, Phase 2
22Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO)RecruitingNCT01805024Phase 1
23Hematopoietic Stem Cell Therapy for Patients With Refractory Myasthenia GravisTerminatedNCT00424489Phase 1
24Flu Vaccine Study in Neuromuscular Patients 2011Unknown statusNCT01422200
25Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsUnknown statusNCT01306994
26WREX Outcome StudyUnknown statusNCT02218593
27Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon SyndromeUnknown statusNCT01144741
28Study of Quality of Life in Freeman-Sheldon Syndrome and Related ConditionsUnknown statusNCT01307475
29Aerobic Training in Patients With Congenital MyopathiesCompletedNCT02020187
30Natural History in CCFDN and IBM SyndromesCompletedNCT01902940
31Characteristics of Nondystrophic MyotoniasCompletedNCT00244413
32MRI and Muscle Involvement in Patients With Mutations in GMPPBCompletedNCT02635321
33A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular DystrophyCompletedNCT01836627
34Relations Between Myotonia and FitnessCompletedNCT02161835
35Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to TreatmentCompletedNCT00499070
36Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus FootCompletedNCT01265238
37Treatment of Spastic Equinovarus Foot After StrokeCompletedNCT00199589
38A Randomized Exercise Trial for Wheelchair UsersCompletedNCT00866112
39Compare the Medical Conditions of Gulf War Veterans to Non-Deployed VeteransCompletedNCT00032461
40Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral SclerosisCompletedNCT00023075
41Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
42Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
43Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle DiseasesRecruitingNCT03018184
44Muscle Oxygenation in Effort in Neuromuscular DiseasesRecruitingNCT02789059
45Myotubular Myopathy Genetic Testing StudyRecruitingNCT01817946
46T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
47Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)RecruitingNCT02057705
48A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)RecruitingNCT02231697
49A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) SubjectsRecruitingNCT02704273
50Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

Search NIH Clinical Center for Congenital Myopathy

Genetic Tests for Congenital Myopathy

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Genetic tests related to Congenital Myopathy:

id Genetic test Affiliating Genes
1 Congenital Myopathy27 24

Anatomical Context for Congenital Myopathy

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MalaCards organs/tissues related to Congenital Myopathy:

36
Skeletal muscle, Testes, Heart, Lung, Brain, Skin

Publications for Congenital Myopathy

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Articles related to Congenital Myopathy:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. (28003463)
2017
2
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. (27816943)
2017
3
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. (27484770)
2016
4
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. (28003497)
2016
5
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness. (27177998)
2016
6
Prevalence and phenotypes of congenital myopathy due to I+-actin 1 gene mutations. (26172852)
2016
7
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. (27726070)
2016
8
Aerobic Training in Patients with Congenital Myopathy. (26751952)
2016
9
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. (28012042)
2016
10
Structural, functional and molecular dynamics analysis of the native and mutated actin to study its effect on congenital myopathy. (27448459)
2016
11
Use of guidelines when planning home care of a girl with severe congenital myopathy. (26776543)
2016
12
A case of congenital myopathy (Nemaline myopathy). (27727847)
2016
13
Aberrant movement of I^-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle. (25978979)
2015
14
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. (26403434)
2015
15
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years. (27858727)
2015
16
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease. (26001911)
2015
17
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. (25987458)
2015
18
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (26700687)
2015
19
Nocturnal respiratory failure in a child with congenital myopathy - management using average volume-assured pressure support (AVAPS). (26392861)
2015
20
A case of congenital myopathy masquerading as paroxysmal dyskinesia. (25506169)
2014
21
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. (24951453)
2014
22
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy. (24973498)
2014
23
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. (25079567)
2014
24
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. (24692096)
2014
25
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. (24507666)
2014
26
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. (23800289)
2013
27
Congenital myopathy is caused by mutation of HACD1. (23933735)
2013
28
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. (23553787)
2013
29
Congenital myopathy with focal loss of cross-striations revisited. (23127960)
2013
30
Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy. (23464837)
2013
31
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. (23804214)
2013
32
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. (24214178)
2013
33
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle. (23294764)
2013
34
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. (22980765)
2012
35
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. (22749829)
2012
36
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. (22798622)
2012
37
Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. (22818856)
2012
38
Did giant mitochondria delay muscle maturation? An uncommon congenital myopathy. (22693000)
2012
39
Congenital myopathy caused by a novel missense mutation in the CFL2 gene. (22560515)
2012
40
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. (22371254)
2012
41
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. (22752422)
2012
42
Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy. (23005904)
2012
43
A fatal case of cor pulmonale with undetected chronic hypoventilation in an infant with a known congenital myopathy. (22754704)
2012
44
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. (21514153)
2011
45
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. (21062345)
2011
46
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. (21267004)
2011
47
Prevalence of congenital myopathies in a representative pediatric united states population. (22028225)
2011
48
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. (21911697)
2011
49
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. (20937510)
2011
50
Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene. (20452215)
2010

Variations for Congenital Myopathy

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Expression for genes affiliated with Congenital Myopathy

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Search GEO for disease gene expression data for Congenital Myopathy.

Pathways for genes affiliated with Congenital Myopathy

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Pathways related to Congenital Myopathy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4ACTA1, HRAS, ITGA7
29.4ACTA1, DMD
3
Show member pathways
9.1CFL2, HRAS, MYH7
49.0ACTA1, DMD, NEB
5
Show member pathways
8.6DMD, NEB, RYR1, SCN4A
6
Show member pathways
8.5ACTA1, CFL2, HRAS, ITGA7, MYH7
7
Show member pathways
8.5ACTA1, CFL2, HRAS, ITGA7, MYH7
8
Show member pathways
8.5ACTA1, CFL2, HRAS, ITGA7, MYH7
9
Show member pathways
8.3ACTA1, DMD, HRAS, ITGA7, RYR1
10
Show member pathways
7.9ACTA1, CFL2, COL6A3, HRAS, ITGA7, MYH7

GO Terms for genes affiliated with Congenital Myopathy

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Cellular components related to Congenital Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1I bandGO:003167410.4CFL2, RYR1
2sarcomereGO:003001710.2ACTA1, MYH7
3actin cytoskeletonGO:001562910.1ACTA1, CFL2, NEB
4myofibrilGO:00300169.4DMD, MYH7, NEB
5Z discGO:00300188.4CFL2, DMD, MYH7, NEB

Biological processes related to Congenital Myopathy according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1muscle cell cellular homeostasisGO:00467169.9CFL2, DMD
2skeletal muscle fiber developmentGO:00487419.9ACTA1, RYR1
3cardiac muscle contractionGO:00600489.8DMD, MYH7
4muscle contractionGO:00069369.5ACTA1, MYH7, RYR1, SCN4A
5regulation of heart rateGO:00020279.5DMD, MYH7
6muscle filament slidingGO:00300499.1ACTA1, DMD, MYH7, NEB
7muscle organ developmentGO:00075178.9COL6A3, DMD, ITGA7, NEB

Molecular functions related to Congenital Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:00170229.8ACTA1, DMD
2structural constituent of muscleGO:00083079.3DMD, NEB

Sources for Congenital Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet