CFTD
MCID: CNG046
MIFTS: 50

Congenital Fiber-Type Disproportion (CFTD) malady

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

Aliases & Classifications for Congenital Fiber-Type Disproportion

Aliases & Descriptions for Congenital Fiber-Type Disproportion:

Name: Congenital Fiber-Type Disproportion 12 23 24 25 14
Cftdm 23 50 24 25 56
Congenital Myopathy with Fiber-Type Disproportion 23 24
Congenital Myopathy with Fiber Type Disproportion 25 29
Fiber-Type Disproportion Myopathy, Congenital 50 52
Congenital Fiber-Type Disproportion Myopathy 50 56
Congenital Fiber Type Disproportion 50 52
Myopathy, Congenital with Fiber-Type Disproportion 50
Cftd 25

Characteristics:

Orphanet epidemiological data:

56
congenital fiber-type disproportion myopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080102
Orphanet 56 ORPHA2020
ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 70 C0546264

Summaries for Congenital Fiber-Type Disproportion

Genetics Home Reference : 25 Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness (myopathy), particularly in the muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect the muscles of the face and muscles that control eye movement (ophthalmoplegia), sometimes causing droopy eyelids (ptosis). Individuals with congenital fiber-type disproportion generally have a long face, a high arch in the roof of the mouth (high-arched palate), and crowded teeth. Affected individuals may have joint deformities (contractures) and an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require use of a machine to help regulate their breathing at night (noninvasive mechanical ventilation), and occasionally during the day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have a weakened and enlarged heart muscle (dilated cardiomyopathy).

MalaCards based summary : Congenital Fiber-Type Disproportion, also known as cftdm, is related to myopathy, congenital, with fiber-type disproportion and myopathy, and has symptoms including pectus excavatum, muscular hypotonia and scoliosis. An important gene associated with Congenital Fiber-Type Disproportion is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Vascular smooth muscle contraction. Affiliated tissues include heart, eye and skeletal muscle, and related phenotypes are behavior/neurological and cardiovascular system

NIH Rare Diseases : 50 congenital fiber type disproportion is a type of congenital myopathy. congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. early signs and symptoms of congenital fiber type disproportion include floppiness, limb and facial weakness, and breathing problems. it is a genetic disease caused by mutations in the acta1, sepn1, ryr1 or tpm3 genes. depending on the gene and mutation involved, congenital fiber type disproportion can be passed through families in an autosomal recessive, autosomal dominant, or x-linked manner. last updated: 9/5/2012

Wikipedia : 71 Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle... more...

GeneReviews: NBK1259

Related Diseases for Congenital Fiber-Type Disproportion

Diseases in the Congenital Fiber-Type Disproportion family:

Acta1-Related Congenital Fiber-Type Disproportion Myh7-Related Congenital Fiber-Type Disproportion
Ryr1-Related Congenital Fiber-Type Disproportion Selenon-Related Congenital Fiber-Type Disproportion
Tpm2-Related Congenital Fiber-Type Disproportion Tpm3-Related Congenital Fiber-Type Disproportion

Diseases related to Congenital Fiber-Type Disproportion via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
id Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 32.5 ACTA1 HACD1 MYH7 RYR1 SELENON TPM3
2 myopathy 31.0 ACTA1 RYR1 TPM2 TPM3
3 acta1-related congenital fiber-type disproportion 12.3
4 tpm3-related congenital fiber-type disproportion 12.2
5 myh7-related congenital fiber-type disproportion 12.2
6 ryr1-related congenital fiber-type disproportion 12.2
7 selenon-related congenital fiber-type disproportion 12.2
8 tpm2-related congenital fiber-type disproportion 12.2
9 qazi markouizos syndrome 11.1
10 minicore myopathy with external ophthalmoplegia 11.1
11 nonsyndromic disorders of testicular development 10.3 RYR1 SELENON
12 iodine antenatal infection 10.3 ACTA1 TPM3
13 lumbar malsegmentation short stature 10.3 DMD DYSF
14 glomerulosclerosis, focal segmental, 5 10.3 EMD MYH7
15 adrenal cortex disease 10.3 DYSF SELENON
16 cardiac rupture 10.2 ACTA1 TPM2 TPM3
17 myelofibrosis 10.2 RYR1 SELENON TPM3
18 undifferentiated pleomorphic sarcoma 10.2 ACTA1 TPM2
19 chondrodysplasia calcificans metaphysealis 10.2 ACTA1 TPM2 TPM3
20 retinitis pigmentosa 38 10.2 EMD LMNA
21 endolymphatic sac tumor 10.2 EMD LMNA
22 hypoglossal nerve neoplasm 10.2 ACTA1 TPM2 TPM3
23 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 10.2 ACTA1 DMD MYH7
24 segawa syndrome, recessive 10.2 ACTA1 EMD RYR1
25 congenital myopathy 10.2
26 cardiomyopathy, dilated, 1a 10.2 EMD LMNA
27 arthrogryposis, distal, type 8 10.2 EMD LMNA RYR1
28 lyme disease 10.2 DMD DYSF MYH7
29 pancreatic agenesis 1 10.2 DMD DYSF
30 sudden infant death with dysgenesis of the testes syndrome 10.2 DMD LMNA
31 mosaic trisomy 1 10.2 EMD LMNA MYH7
32 retinitis pigmentosa 18 10.2 EMD LMNA MYH7
33 dowling-degos disease 10.1 ACTA1 EMD MYH7 SELENON
34 lipodystrophy, familial partial, 2 10.1 DMD EMD LMNA
35 ullrich congenital muscular dystrophy 1 10.1 DMD DYSF LMNA
36 phototoxic dermatitis 10.1 DMD EMD RYR1
37 mandibuloacral dysplasia 10.1 EMD LMNA
38 parametrium malignant neoplasm 10.1 DMD EMD LMNA
39 adams-oliver syndrome 2 10.0 DMD HACD1 RYR1
40 familial partial lipodystrophy 10.0 DMD EMD LMNA RYR1
41 muscular dystrophy, rigid spine, 1 10.0 ACTA1 DMD DYSF MYH7 SELENON
42 muscular dystrophy, limb-girdle, type 1b 10.0 DMD ITGA7 LMNA SELENON
43 monieziasis 10.0 MYH7 TNNT3
44 cerebral angioma 10.0 DMD DYSF EMD RYR1 SELENON
45 pervasive developmental disorder 10.0 DMD LMNA MYH7 MYL2
46 microcephaly and chorioretinopathy 1 10.0 ACTA1 DMD ITGA7 MYH7 RYR1
47 central corneal ulcer 10.0 DMD DYSF EMD LMNA SELENON
48 ptosis 9.9
49 leukodystrophy 9.9
50 respiratory failure 9.9

Graphical network of the top 20 diseases related to Congenital Fiber-Type Disproportion:



Diseases related to Congenital Fiber-Type Disproportion

Symptoms & Phenotypes for Congenital Fiber-Type Disproportion

Human phenotypes related to Congenital Fiber-Type Disproportion:

56 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 56 Frequent (79-30%)
2 muscular hypotonia 56 Very frequent (99-80%)
3 scoliosis 56 Frequent (79-30%)
4 recurrent respiratory infections 56 Frequent (79-30%)
5 myopathy 56 Very frequent (99-80%)
6 reduced tendon reflexes 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Congenital Fiber-Type Disproportion:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ACTA1 DMD DYSF EMD GALC INSR
2 cardiovascular system MP:0005385 10.07 DMD EMD GALC INSR ITGA7 LMNA
3 growth/size/body region MP:0005378 10.02 TNNT3 ACTA1 DMD GALC INSR ITGA7
4 mortality/aging MP:0010768 9.9 ACTA1 DMD GALC INSR ITGA7 LMNA
5 liver/biliary system MP:0005370 9.8 TNNT3 ACTA1 DMD GALC INSR LMNA
6 muscle MP:0005369 9.8 DMD DYSF EMD GALC INSR ITGA7
7 skeleton MP:0005390 9.23 ACTA1 DMD GALC ITGA7 LMNA RYR1

Drugs & Therapeutics for Congenital Fiber-Type Disproportion

Interventional clinical trials:


id Name Status NCT ID Phase
1 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Congenital Fiber-Type Disproportion

Genetic Tests for Congenital Fiber-Type Disproportion

Genetic tests related to Congenital Fiber-Type Disproportion:

id Genetic test Affiliating Genes
1 Congenital Myopathy with Fiber Type Disproportion 29
2 Congenital Fiber-Type Disproportion 24 TPM3

Anatomical Context for Congenital Fiber-Type Disproportion

MalaCards organs/tissues related to Congenital Fiber-Type Disproportion:

39
Heart, Eye, Skeletal Muscle

Publications for Congenital Fiber-Type Disproportion

Articles related to Congenital Fiber-Type Disproportion:

(show all 41)
id Title Authors Year
1
Congenital fiber type disproportion. ( 26526626 )
2015
2
Congenital fiber type disproportion myopathy caused by LMNA mutations. ( 24642510 )
2014
3
A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies. ( 23762716 )
2013
4
Orthognathic surgery in primary myopathies: severe case of congenital fiber type disproportion with long-term follow-up and review of the literature. ( 21864970 )
2012
5
Congenital fiber-type disproportion. ( 22172422 )
2011
6
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. ( 21288719 )
2011
7
Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. ( 20179953 )
2010
8
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. ( 19953533 )
2010
9
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. ( 20583297 )
2010
10
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). ( 19483656 )
2009
11
Mutations in TPM3 are a common cause of congenital fiber type disproportion. ( 18300303 )
2008
12
The pathogenesis of ACTA1-related congenital fiber type disproportion. ( 17387733 )
2007
13
Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance. ( 16941741 )
2006
14
SEPN1: associated with congenital fiber-type disproportion and insulin resistance. ( 16365872 )
2006
15
Congenital fiber-type disproportion myopathy with type I fiber predominance and type II fiber smallness and atrophy--a sterological analysis. ( 15696781 )
2005
16
[An adult case of congenital fiber type disproportion (CFTD) with cardiomyopathy]. ( 15960177 )
2005
17
A novel X-linked form of congenital fiber-type disproportion. ( 16173074 )
2005
18
Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases. ( 15269486 )
2004
19
Congenital fiber type disproportion--30 years on. ( 14575234 )
2003
20
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. ( 12376748 )
2002
21
Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. ( 10828713 )
2000
22
Congenital fiber type disproportion: severe form with marked improvement. ( 10513694 )
1999
23
Cardiac manifestations of congenital fiber-type disproportion myopathy. ( 10073429 )
1999
24
Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy). ( 10844410 )
1999
25
A child with both congenital fiber type disproportion and giant congenital melanocytic nevi with malignant melanoma. ( 9343958 )
1997
26
Craniofacial abnormalities associated with congenital fiber type disproportion myopathy. ( 9484111 )
1997
27
Association of Krabbe leukodystrophy and congenital fiber type disproportion. ( 8858709 )
1996
28
Severe central nervous system involvement in a patient with congenital fiber-type disproportion myopathy. ( 8745394 )
1996
29
Congenital Fiber-Type Disproportion ( 20301436 )
1993
30
Early predictors of poor outcome in congenital fiber-type disproportion myopathy. ( 1524518 )
1992
31
Congenital fiber type disproportion in two sisters. A clinical and histopathological study. ( 1293983 )
1992
32
Congenital fiber type disproportion: report of one case. ( 2284944 )
1990
33
A serial muscle biopsy study in a case of congenital fiber-type disproportion associated with progressive respiratory failure. ( 2240465 )
1990
34
Congenital fiber type disproportion myopathy in Lowe syndrome. ( 2604802 )
1989
35
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance. ( 3342545 )
1988
36
Congenital fiber type disproportion in an adult: a morphometric and microchemical study. ( 2972157 )
1988
37
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia. ( 3978981 )
1985
38
Congenital fiber type disproportion with fatal outcome: a case report. ( 7341555 )
1981
39
Ophthalmoplegia and ptosis in congenital fiber type disproportion. ( 7264853 )
1981
40
Clinical variability in congenital fiber type disproportion. ( 7381515 )
1980
41
Congenital fiber type disproportion in identical twins. ( 569460 )
1977

Variations for Congenital Fiber-Type Disproportion

ClinVar genetic disease variations for Congenital Fiber-Type Disproportion:

6 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1 SELENON NM_020451.2(SELENON): c.713dupA (p.Asn238Lysfs) duplication Pathogenic rs368104077 GRCh38 Chromosome 1, 25808755: 25808755
2 SELENON NM_020451.2(SELENON): c.943G> A (p.Gly315Ser) single nucleotide variant Pathogenic rs121908188 GRCh37 Chromosome 1, 26136244: 26136244
3 TPM3 NM_152263.3(TPM3): c.503G> A (p.Arg168His) single nucleotide variant Pathogenic rs121964852 GRCh37 Chromosome 1, 154145447: 154145447
4 TPM3 NM_152263.3(TPM3): c.298C> A (p.Leu100Met) single nucleotide variant Pathogenic rs121964853 GRCh37 Chromosome 1, 154148670: 154148670
5 TPM3 NM_152263.3(TPM3): c.502C> G (p.Arg168Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
6 TPM3 NM_152263.3(TPM3): c.502C> T (p.Arg168Cys) single nucleotide variant Pathogenic rs121964854 GRCh37 Chromosome 1, 154145448: 154145448
7 ACTA1 NM_001100.3(ACTA1): c.881A> T (p.Asp294Val) single nucleotide variant Pathogenic rs121909529 GRCh37 Chromosome 1, 229567577: 229567577
8 ACTA1 NM_001100.3(ACTA1): c.668T> C (p.Leu223Pro) single nucleotide variant Pathogenic rs121909530 GRCh37 Chromosome 1, 229567881: 229567881
9 ACTA1 NM_001100.3(ACTA1): c.1000C> T (p.Pro334Ser) single nucleotide variant Pathogenic rs121909531 GRCh37 Chromosome 1, 229567380: 229567380
10 MYH7 NM_000257.3(MYH7): c.5186_5188delAGA (p.Lys1729del) deletion Pathogenic rs367543052 GRCh37 Chromosome 14, 23884685: 23884687
11 MYH7 NM_000257.3(MYH7): c.5807A> G (p.Ter1936Trp) single nucleotide variant Pathogenic rs367543053 GRCh37 Chromosome 14, 23882064: 23882064
12 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
13 RYR1 NM_000540.2(RYR1): c.13480G> T (p.Glu4494Ter) single nucleotide variant Pathogenic rs143849895 GRCh37 Chromosome 19, 39057593: 39057593
14 RYR1 NM_000540.2(RYR1): c.5333C> A (p.Ser1778Ter) single nucleotide variant Pathogenic rs367543055 GRCh37 Chromosome 19, 38976628: 38976628
15 RYR1 NM_000540.2(RYR1): c.6104A> T (p.His2035Leu) single nucleotide variant Pathogenic rs367543056 GRCh37 Chromosome 19, 38981349: 38981349
16 RYR1 NM_000540.2(RYR1): c.738T> G (p.Tyr246Ter) single nucleotide variant Pathogenic rs367543054 GRCh37 Chromosome 19, 38937346: 38937346
17 RYR1 NM_000540.2(RYR1): c.9000+1G> T single nucleotide variant Pathogenic rs111364670 GRCh37 Chromosome 19, 39001206: 39001206
18 RYR1 NM_000540.2(RYR1): c.9978C> A (p.Asn3326Lys) single nucleotide variant Pathogenic rs367543057 GRCh37 Chromosome 19, 39008291: 39008291
19 ACTA1 NM_001100.3(ACTA1): c.143G> A (p.Gly48Asp) single nucleotide variant Pathogenic rs367543049 GRCh37 Chromosome 1, 229568614: 229568614
20 ACTA1 NM_001100.3(ACTA1): c.16G> A (p.Glu6Lys) single nucleotide variant Pathogenic rs367543048 GRCh37 Chromosome 1, 229568847: 229568847
21 ACTA1 NM_001100.3(ACTA1): c.621G> C (p.Glu207Asp) single nucleotide variant Pathogenic rs367543050 GRCh37 Chromosome 1, 229567928: 229567928
22 ACTA1 NM_001100.3(ACTA1): c.727G> A (p.Glu243Lys) single nucleotide variant Pathogenic rs367543051 GRCh37 Chromosome 1, 229567822: 229567822
23 TPM3 NM_152263.3(TPM3): c.11C> T (p.Ala4Val) single nucleotide variant Pathogenic rs199474711 GRCh37 Chromosome 1, 154164484: 154164484
24 TPM3 NM_152263.3(TPM3): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs199474713 GRCh37 Chromosome 1, 154148696: 154148696
25 TPM3 NM_152263.3(TPM3): c.505A> G (p.Lys169Glu) single nucleotide variant Pathogenic rs199474715 GRCh37 Chromosome 1, 154145445: 154145445
26 TPM3 NM_152263.3(TPM3): c.721G> A (p.Glu241Lys) single nucleotide variant Pathogenic rs199474717 GRCh37 Chromosome 1, 154142930: 154142930
27 TPM3 NM_152263.3(TPM3): c.733A> G (p.Arg245Gly) single nucleotide variant Pathogenic rs199474718 GRCh37 Chromosome 1, 154142918: 154142918
28 SELENON NM_020451.2(SELENON): c.872+2T> C single nucleotide variant Pathogenic rs794727808 GRCh37 Chromosome 1, 26135643: 26135643
29 SELENON NM_020451.2(SELENON): c.827_829dupCCT (p.Ala276_Cys277insSer) duplication Likely pathogenic rs797045950 GRCh37 Chromosome 1, 26135596: 26135598

Expression for Congenital Fiber-Type Disproportion

Search GEO for disease gene expression data for Congenital Fiber-Type Disproportion.

Pathways for Congenital Fiber-Type Disproportion

Pathways related to Congenital Fiber-Type Disproportion according to GeneCards Suite gene sharing:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 ACTA1 INSR ITGA7 MYH7 MYL2
2
Show member pathways
12.61 INSR MYH7 MYL2 RYR1 TPM2 TPM3
3
Show member pathways
12.49 DMD DYSF MYL2 RYR1 TNNI2 TNNT3
4
Show member pathways
12.35 ACTA1 ITGA7 MYH7 MYL2
5
Show member pathways
12.12 ACTA1 DMD EMD ITGA7 LMNA
6
Show member pathways
11.8 DMD EMD ITGA7 LMNA MYH7 MYL2
7 11.45 MYH7 MYL2 TPM2 TPM3
8 11.14 DYSF TPM2 TPM3
9 11.02 ACTA1 DMD MYL2 TNNI2 TNNT3 TPM2
10 10.8 MYH7 MYL2
11 10.71 ACTA1 DMD

GO Terms for Congenital Fiber-Type Disproportion

Cellular components related to Congenital Fiber-Type Disproportion according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.5 ACTA1 TPM2 TPM3
2 sarcomere GO:0030017 9.43 ACTA1 MYH7 MYL2
3 troponin complex GO:0005861 9.37 TNNI2 TNNT3
4 stress fiber GO:0001725 9.33 ACTA1 MYH7 TPM3
5 myofibril GO:0030016 9.13 DMD MYH7 MYL2
6 muscle thin filament tropomyosin GO:0005862 8.62 TPM2 TPM3

Biological processes related to Congenital Fiber-Type Disproportion according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.67 DMD EMD ITGA7
2 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 MYH7 MYL2
3 skeletal muscle tissue regeneration GO:0043403 9.55 DMD SELENON
4 regulation of the force of heart contraction GO:0002026 9.54 MYH7 MYL2
5 regulation of muscle contraction GO:0006937 9.52 TNNI2 TNNT3
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.51 DMD SELENON
7 skeletal muscle fiber development GO:0048741 9.5 ACTA1 RYR1 SELENON
8 muscle contraction GO:0006936 9.5 ACTA1 DYSF EMD MYH7 RYR1 TPM2
9 muscle fiber development GO:0048747 9.48 DMD MYL2
10 mitotic nuclear envelope reassembly GO:0007084 9.46 EMD LMNA
11 cardiac muscle contraction GO:0060048 9.46 DMD MYH7 MYL2 TNNI2
12 regulation of ATPase activity GO:0043462 9.43 TNNT3 TPM2
13 skeletal muscle contraction GO:0003009 9.43 MYH7 TNNI2 TNNT3
14 cellular response to caffeine GO:0071313 9.4 RYR1 SELENON
15 regulation of striated muscle contraction GO:0006942 9.37 MYL2 TNNT3
16 muscle filament sliding GO:0030049 9.23 ACTA1 DMD MYH7 MYL2 TNNI2 TNNT3

Molecular functions related to Congenital Fiber-Type Disproportion according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.26 DMD MYL2 TPM2 TPM3
2 actin binding GO:0003779 9.17 DMD EMD MYH7 TNNI2 TNNT3 TPM2
3 myosin binding GO:0017022 9.16 ACTA1 DMD

Sources for Congenital Fiber-Type Disproportion

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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