MCID: NML001
MIFTS: 49

Nemaline Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Nemaline Myopathy

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NIH Rare Diseases:41 Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. people with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. this weakness can worsen over time. affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). mutations in at least six genes can cause nemaline myopathy. some individuals with nemaline myopathy do not have an identified mutation. the genetic cause of the disorder is unknown in these individuals. nemaline myopathy is usually inherited in an autosomal recessive pattern. less often, this condition is inherited in an autosomal dominant pattern.nemaline myopathy is divided into six types. you can search for information about a particular type of nemaline myopathy from the gard home page. enter the name of the condition in the gard search box and then select the type from the drop down menu. last updated: 3/10/2014

MalaCards based summary: Nemaline Myopathy, also known as nemaline rod myopathy, is related to myopathy and hypertrophic cardiomyopathy. An important gene associated with Nemaline Myopathy is NEB (nebulin), and among its related pathways are EphrinA-EphR Signaling and Apoptosis and survival Caspase cascade. The compounds actomyosin and calcium have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart, and related mouse phenotypes are muscle and growth/size/body.

Disease Ontology:9 A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies.

Genetics Home Reference:21 Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.

Wikipedia:63 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews summary for nem

Aliases & Classifications for Nemaline Myopathy

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Sources:
9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 27ICD9CM, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Nemaline Myopathy, Aliases & Descriptions:

Name: Nemaline Myopathy 9 10 19 41 20 21 11 47
Nemaline Rod Myopathy 9 19 41 47
Nemaline Body Disease 9 41 21
Rod Myopathy 9 41 21
Nemaline Rod Disease 41 21
Myopathies, Nemaline 21 60
Myopathies Nemaline 43 22
 
Rod-Body Myopathy 41 21
Rod Body Disease 41 21
Nem 41 47
Nm 41 47
Congenital Rod Disease 41
Myopathy, Nemaline 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
nemaline myopathy:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology9 DOID:3191
MeSH33 D017696
ICD9CM27 359.0
Orphanet47 607
SNOMED-CT55 75072002
MESH via Orphanet34 D017696
ICD10 via Orphanet26 G71.2
UMLS via Orphanet61 C0206157

Related Diseases for Nemaline Myopathy

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Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 9 Nemaline Myopathy 10
Nemaline Myopathy 1, Autosomal Dominant or Recessive Nemaline Myopathy 3, Autosomal Dominant or Recessive
Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy 8, Autosomal Recessive
Nemaline Myopathy 4, Autosomal Dominant Nemaline Myopathy 7, Autosomal Recessive
Nemaline Myopathy 6, Autosomal Dominant Acta1-Related Nemaline Myopathy
Neb-Related Nemaline Myopathy Tnnt1-Related Nemaline Myopathy
Tpm2-Related Nemaline Myopathy Tpm3-Related Nemaline Myopathy
Cfl2-Related Nemaline Myopathy Kbtbd13-Related Nemaline Myopathy
Severe Congenital Nemaline Myopathy Intermediate Nemaline Myopathy
Adult-Onset Nemaline Myopathy

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.4TNNT1, TPM1, TPM2, MYOT, NEB, ACTA1
2hypertrophic cardiomyopathy30.7TPM1, ACTC1
3central core disease30.6MYOT, NEB
4neuromuscular disease30.3ACTA1, MYOT
5nemaline myopathy 3, autosomal dominant or recessive10.7
6adult-onset nemaline myopathy10.7
7nemaline myopathy 5, amish type10.7
8nemaline myopathy 1, autosomal dominant or recessive10.6
9nemaline myopathy 2, autosomal recessive10.6
10severe congenital nemaline myopathy10.6
11nemaline myopathy 4, autosomal dominant10.6
12nemaline myopathy 7, autosomal recessive10.6
13nemaline myopathy 6, autosomal dominant10.6
14respiratory failure10.6
15nemaline myopathy 8, autosomal recessive10.5
16childhood-onset nemaline myopathy10.5
17congenital fiber-type disproportion10.5ACTA1
18nemaline myopathy 910.4
19nemaline myopathy 1010.4
20dilated cardiomyopathy10.4
21hypothyroidism10.4
22ophthalmoplegia10.4
23acta1-related nemaline myopathy10.4
24neb-related nemaline myopathy10.4
25tnnt1-related nemaline myopathy10.4
26tpm2-related nemaline myopathy10.4
27tpm3-related nemaline myopathy10.4
28cfl2-related nemaline myopathy10.4
29kbtbd13-related nemaline myopathy10.4
30hypotonia10.4
31intermediate nemaline myopathy10.4
32typical nemaline myopathy10.4
33hiv-110.3
34charcot-marie-tooth disease10.3
35tooth disease10.3
36actin-accumulation myopathy10.3
37intranuclear rod myopathy10.3
38myopathy congenital10.3NEB, ACTA1
39myopathy, congenital, with fiber-type disproportion10.3TPM3, ACTA1
40muscular dystrophy10.2MYOT, NEB
41systemic lupus erythematosus10.1
42gastroesophageal reflux10.1
43escobar syndrome10.1
44multiple myeloma10.1
45muscle disorders10.1
46temporomandibular ankylosis10.1
47ankylosis10.1
48lateral sclerosis10.1
49congenital diaphragmatic hernia10.1
50lupus erythematosus10.1

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



Diseases related to nemaline myopathy

Symptoms for Nemaline Myopathy

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Drugs & Therapeutics for Nemaline Myopathy

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Drug clinical trials:

Search ClinicalTrials for Nemaline Myopathy

Search NIH Clinical Center for Nemaline Myopathy

Genetic Tests for Nemaline Myopathy

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Genetic tests related to Nemaline Myopathy:

id Genetic test Affiliating Genes
1 Nemaline Myopathy20 22 TPM3

Anatomical Context for Nemaline Myopathy

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MalaCards organs/tissues related to Nemaline Myopathy:

31
Skeletal muscle, Heart

Animal Models for Nemaline Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Nemaline Myopathy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2ACTA1, ACTC1, NEB, TPM3, TNNT3, CFL2
2MP:00053787.8ACTA1, ACTC1, NEB, TPM1, TNNT3, CFL2
3MP:00107687.1CFL2, TNNT3, TPM1, TPM3, NEB, ACTC1

Publications for Nemaline Myopathy

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Articles related to Nemaline Myopathy:

(show top 50)    (show all 301)
idTitleAuthorsYear
1
Sudden cardiac arrest in a child with nemaline myopathy. (25888334)
2015
2
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish. (25430424)
2015
3
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. (25721947)
2015
4
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. (24689076)
2014
5
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. (25088345)
2014
6
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25250574)
2014
7
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy. (24447884)
2014
8
Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. (25381859)
2014
9
The nemaline myopathy-causing E117K mutation in I^-tropomyosin reduces thin filament activation. (23689010)
2013
10
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
11
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. (22442437)
2012
12
Nemaline myopathy-related skeletal muscle I+-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. (23029319)
2012
13
Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. (21570694)
2011
14
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. (22067542)
2011
15
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (21109227)
2010
16
Nemaline myopathy: clinical, histochemical and immunohistochemical features. (19838523)
2009
17
Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. (18565829)
2008
18
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (17187373)
2007
19
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. (16967490)
2007
20
Adult-onset nemaline myopathy and monoclonal gammopathy. (16401746)
2006
21
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. (16945537)
2006
22
Hypothyroidism and nemaline myopathy in an adult. (16614046)
2006
23
Magnetic resonance imaging of muscle in nemaline myopathy. (15564032)
2004
24
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. (15198992)
2004
25
Clinical course correlates poorly with muscle pathology in nemaline myopathy. (12601110)
2003
26
109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. (12899878)
2003
27
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. (12731651)
2003
28
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. (12006676)
2002
29
Nebulin mutations in autosomal recessive nemaline myopathy: an update. (12207938)
2002
30
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. (12467750)
2002
31
Successful botulinum toxin treatment of dysphagia in a young child with nemaline myopathy. (11453573)
2001
32
Respiratory failure in nemaline myopathy. (9744641)
1998
33
Nemaline myopathy in the neonate: two case reports. (8789770)
1996
34
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. (7663526)
1995
35
Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria. (7935532)
1994
36
A new case of severe congenital nemaline myopathy. (8155933)
1993
37
Fiber type disproportion in nemaline myopathy. (2804774)
1989
38
Progression in nemaline myopathy. (2683560)
1989
39
Congenital nemaline myopathy. A clinical follow-up of twelve patients. (2926439)
1989
40
Pathology of congenital nemaline myopathy. A follow-up study. (3356991)
1988
41
Early fatal nemaline myopathy: case report and review. (2826279)
1987
42
Nemaline myopathy in an adult with primary hypothyroidism. (3719466)
1986
43
Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings. (4051839)
1985
44
Nemaline myopathy rod bodies. Structure and composition. (6754876)
1982
45
A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities. (6247453)
1980
46
Nemaline myopathy. (506794)
1979
47
A new concept of childhood nemaline myopathy. (4251331)
1971
48
Nemaline myopathy. I. Histochemical study. (4179485)
1968
49
Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter. (5939042)
1966
50
NEMALINE MYOPATHY; A SECOND CASE. (14147679)
1964

Variations for Nemaline Myopathy

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Clinvar genetic disease variations for Nemaline Myopathy:

6 (show all 37)
id Gene Variation Type Significance SNP ID Assembly Location
1TNNT1NM_003283.5(TNNT1): c.538G> T (p.Glu180Ter)single nucleotide variantPathogenicrs80358249GRCh37Chr 19, 55648544: 55648544
2TPM3NM_152263.3(TPM3): c.26T> G (p.Met9Arg)single nucleotide variantPathogenicrs80358247GRCh37Chr 1, 154164469: 154164469
3TPM3NM_152263.3(TPM3): c.857A> C (p.Ter286Ser)single nucleotide variantPathogenicrs199474720GRCh37Chr 1, 154140414: 154140414
4TPM3TPM3: n.790+2459G> Asingle nucleotide variantPathogenicrs113605263GRCh37Chr 1, 154140417: 154140417
5TPM3NM_152263.3(TPM3): c.94C> T (p.Gln32Ter)single nucleotide variantPathogenicrs80358248GRCh37Chr 1, 154164401: 154164401
6TPM3NM_152263.3(TPM3): c.855delA (p.Ter286Asnfs)deletionPathogenicrs199474719GRCh37Chr 1, 154140416: 154140416
7TPM2NM_003289.3(TPM2): c.440A> C (p.Gln147Pro)single nucleotide variantPathogenicrs104894128GRCh37Chr 9, 35685483: 35685483
8TPM2NM_003289.3(TPM2): c.349G> A (p.Glu117Lys)single nucleotide variantPathogenicrs104894129GRCh37Chr 9, 35685669: 35685669
9TPM2NM_003289.3(TPM2): c.121G> A (p.Glu41Lys)single nucleotide variantPathogenicrs137853306GRCh37Chr 9, 35689262: 35689262
10ACTA1NM_001100.3(ACTA1): c.1074G> T (p.Trp358Cys)single nucleotide variantPathogenicGRCh37Chr 1, 229567306: 229567306
11NEBNEB, 1-BP DEL, G, EX165deletionPathogenic
12NEBNEB, 4-BP INS, EX172insertionPathogenic
13NEBNEB, 2-BP DEL, AG, EX172deletionPathogenic
14NEBNEB, 2-BP DEL, GA, EX181deletionPathogenic
15NEBNM_001271208.1(NEB): c.25279G> T (p.Glu8427Ter)single nucleotide variantPathogenicrs121913662GRCh37Chr 2, 152347009: 152347009
16NEBNEB, IVS163DS, G-Csingle nucleotide variantPathogenic
17NEBNM_004543.4: c.7432-2025_7536+372del2502deletionPathogenicrs80358246GRCh37Chr 2, 152502272: 152504773
18ACTA1NM_001100.3(ACTA1): c.287T> C (p.Leu96Pro)single nucleotide variantPathogenicrs121909519GRCh37Chr 1, 229568470: 229568470
19ACTA1NM_001100.3(ACTA1): c.350A> G (p.Asn117Ser)single nucleotide variantPathogenicrs121909520GRCh37Chr 1, 229568407: 229568407
20ACTA1NM_001100.3(ACTA1): c.493G> T (p.Val165Leu)single nucleotide variantPathogenicrs121909522GRCh37Chr 1, 229568140: 229568140
21ACTA1NM_001100.3(ACTA1): c.782A> T (p.Glu261Val)single nucleotide variantPathogenicrs121909523GRCh37Chr 1, 229567767: 229567767
22ACTA1NM_001100.3(ACTA1): c.1075A> C (p.Ile359Leu)single nucleotide variantPathogenicrs121909524GRCh37Chr 1, 229567305: 229567305
23ACTA1NM_001100.3(ACTA1): c.808G> T (p.Gly270Cys)single nucleotide variantPathogenicrs121909525GRCh37Chr 1, 229567741: 229567741
24ACTA1NM_001100.3(ACTA1): c.414C> G (p.Ile138Met)single nucleotide variantPathogenicrs121909526GRCh37Chr 1, 229568343: 229568343
25ACTA1NM_001100.3(ACTA1): c.493G> A (p.Val165Met)single nucleotide variantPathogenicrs121909522GRCh37Chr 1, 229568140: 229568140
26ACTA1NM_001100.3(ACTA1): c.222G> T (p.Glu74Asp)single nucleotide variantPathogenicrs267606626GRCh37Chr 1, 229568535: 229568535
27KBTBD13KBTBD13, LYS390ASNsingle nucleotide variantPathogenic
28KBTBD13NM_001101362.2(KBTBD13): c.1222C> T (p.Arg408Cys)single nucleotide variantPathogenicrs387907090GRCh37Chr 15, 65370375: 65370375
29KBTBD13NM_001101362.2(KBTBD13): c.742C> A (p.Arg248Ser)single nucleotide variantPathogenicrs200549195GRCh37Chr 15, 65369895: 65369895
30ACTA1NM_001100.3(ACTA1): c.984G> C (p.Lys328Asn)single nucleotide variantPathogenicrs398122936GRCh37Chr 1, 229567474: 229567474
31KLHL40NM_152393.3(KLHL40): c.1582G> A (p.Glu528Lys)single nucleotide variantPathogenicrs397509419GRCh37Chr 3, 42730521: 42730521
32KLHL40NM_152393.3(KLHL40): c.1405G> T (p.Gly469Cys)single nucleotide variantPathogenicrs367579275GRCh37Chr 3, 42730193: 42730193
33KLHL40NM_152393.3(KLHL40): c.602G> T (p.Trp201Leu)single nucleotide variantPathogenicrs397509420GRCh37Chr 3, 42727712: 42727712
34KLHL40NM_152393.3(KLHL40): c.1612G> C (p.Ala538Pro)single nucleotide variantPathogenicrs397509421GRCh37Chr 3, 42732355: 42732355
35KLHL40NM_152393.3(KLHL40): c.602G> A (p.Trp201Ter)single nucleotide variantPathogenicrs397509420GRCh37Chr 3, 42727712: 42727712
36CFL2NM_138638.4(CFL2): c.19G> A (p.Val7Met)single nucleotide variantPathogenicrs397515451GRCh37Chr 14, 35182752: 35182752
37CFL2NM_138638.4(CFL2): c.103G> A (p.Ala35Thr)single nucleotide variantPathogenicrs80358250GRCh37Chr 14, 35182668: 35182668

Expression for genes affiliated with Nemaline Myopathy

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Search GEO for disease gene expression data for Nemaline Myopathy.

Pathways for genes affiliated with Nemaline Myopathy

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

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9CFL2, ACTA1
2
Show member pathways
FAS pathway and Stress induction of HSP regulation36
Apoptosis and survival FAS signaling cascades58
Caspase cascade in apoptosis36
9.9ACTA1, CFL2
39.7ACTC1, ACTA1
49.7ACTA1, ACTC1
5
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.4ACTA1, ACTC1, CFL2
6
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion58
Pathogenic Escherichia coli infection36
Cytoskeleton remodeling Slit Robo signaling
9.4CFL2, ACTC1, ACTA1
79.2CDH15, ACTA1, ACTC1
88.9ACTA1, ACTC1, TPM1
9
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
8.5ACTC1, TPM3, TPM2, TPM1
108.5TPM1, TPM2, TPM3, ACTC1
118.5TPM1, TPM2, TPM3, ACTC1
12
Show member pathways
6.6ACTA1, TNNI2, TNNT3, TNNT1, TPM1, TPM2

Compounds for genes affiliated with Nemaline Myopathy

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
See all sources

Compounds related to Nemaline Myopathy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1actomyosin439.4ACTC1, NEB, TNNT1
2calcium43 49 24 128.8CDH15, TNNI2, TNNT3, TNNT1, TPM1, TPM2

GO Terms for genes affiliated with Nemaline Myopathy

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

idNameGO IDScoreTop Affiliating Genes
1actin filamentGO:00058849.7ACTA1, ACTC1
2I bandGO:00316749.6ACTC1, CFL2
3actin cytoskeletonGO:00156299.3ACTA1, NEB, MYOT, CFL2
4troponin complexGO:00058619.2TNNI2, TNNT3, TNNT1
5muscle thin filament tropomyosinGO:00058629.2TPM3, TPM2, TPM1
6stress fiberGO:00017259.0TPM1, TPM3, ACTA1
7sarcomereGO:00300179.0TPM1, ACTC1, ACTA1
8filamentous actinGO:00319419.0TPM3, TPM1
9cytosolGO:00058296.7TNNI2, TNNT3, TNNT1, TPM1, TPM2, TPM3

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

idNameGO IDScoreTop Affiliating Genes
1regulation of ATPase activityGO:00434629.6TNNT3, TPM2
2skeletal muscle thin filament assemblyGO:00302409.4ACTC1, ACTA1
3cardiac muscle contractionGO:00600489.1ACTC1, TPM1
4skeletal muscle contractionGO:00030099.0TNNT1, TNNT3, TNNI2
5muscle contractionGO:00069368.4TPM1, TPM2, TPM3, MYOT, ACTA1
6muscle filament slidingGO:00300496.7ACTA1, TNNI2, TNNT3, TNNT1, TPM1, TPM2

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

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:00170229.7ACTA1, ACTC1
2troponin T bindingGO:00310149.5TNNT1, TNNI2
3tropomyosin bindingGO:00055239.4TNNT1, TNNT3
4structural constituent of muscleGO:00083078.7TPM1, TPM2, MYOT, NEB
5actin bindingGO:00037797.0NEB, CFL2, TNNI2, TNNT3, TPM1, TPM2

Products for genes affiliated with Nemaline Myopathy

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Sources for Nemaline Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet