NM
MCID: NML001
MIFTS: 47

Nemaline Myopathy (NM) malady

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

Aliases & Classifications for Nemaline Myopathy

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Aliases & Descriptions for Nemaline Myopathy:

Name: Nemaline Myopathy 11 23 48 24 25 12 13
Nemaline Body Disease 11 48 25 27
Nemaline Rod Myopathy 11 23 48 24
Myopathies, Nemaline 25 39 68
Rod Myopathy 11 48 25
Nemaline Rod Disease 48 25
 
Myopathy, Nemaline 25 27
Rod-Body Myopathy 48 25
Rod Body Disease 48 25
Congenital Rod Disease 48
Myopathies Nemaline 50
Nm 48

Characteristics:

GeneReviews:

23
Penetrance: data are insufficient to draw conclusions about penetrance in dominant (acta1-, tpm3-, tpm2-, and kbtbd13-related) forms of nm...


Classifications:



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Disease Ontology11 DOID:3191
ICD1030 G71.2
SNOMED-CT62 75072002
MeSH39 D017696

Summaries for Nemaline Myopathy

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NIH Rare Diseases:48 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 body disease, is related to myopathy and hypertonia. An important gene associated with Nemaline Myopathy is TPM3 (Tropomyosin 3), and among its related pathways are Cardiac muscle contraction and Smooth Muscle Contraction. Affiliated tissues include skeletal muscle and heart, and related mouse phenotype muscle.

Genetics Home Reference:25 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; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. 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.

Disease Ontology:11 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.

Wikipedia:71 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews for NBK1288

Related Diseases for Nemaline Myopathy

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Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 1, Autosomal Dominant or Recessive Nemaline Myopathy 3, Autosomal Dominant or Recessive
Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy 9
Nemaline Myopathy 8, Autosomal Recessive Nemaline Myopathy 10
Nemaline Myopathy 4, Autosomal Dominant Nemaline Myopathy 7, Autosomal Recessive
Nemaline Myopathy 6, Autosomal Dominant Nemaline Myopathy 11
Adult-Onset Nemaline Myopathy Intermediate Congenital Nemaline Myopathy
Severe Congenital Nemaline Myopathy Acta1-Related Nemaline Myopathy
Cfl2-Related Nemaline Myopathy Kbtbd13-Related Nemaline Myopathy
Klhl40-Related Nemaline Myopathy Klhl41-Related Nemaline Myopathy
Lmod3-Related Nemaline Myopathy Neb-Related Nemaline Myopathy
Tnnt1-Related Nemaline Myopathy Tpm2-Related Nemaline Myopathy
Tpm3-Related Nemaline Myopathy

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.0ACTA1, CFL2, KBTBD13, KLHL40, LMOD3, NEB
2hypertonia29.8ACTA1, NEB
3nemaline myopathy 3, autosomal dominant or recessive12.4
4nemaline myopathy 5, amish type12.4
5nemaline myopathy 7, autosomal recessive12.4
6nemaline myopathy 2, autosomal recessive12.3
7nemaline myopathy 1, autosomal dominant or recessive12.3
8nemaline myopathy 8, autosomal recessive12.3
9nemaline myopathy 4, autosomal dominant12.3
10nemaline myopathy 912.3
11nemaline myopathy 1012.3
12nemaline myopathy 6, autosomal dominant12.3
13nemaline myopathy 1112.3
14childhood-onset nemaline myopathy12.1
15adult-onset nemaline myopathy12.1
16severe congenital nemaline myopathy12.0
17klhl40-related nemaline myopathy12.0
18tnnt1-related nemaline myopathy12.0
19intermediate congenital nemaline myopathy11.9
20typical congenital nemaline myopathy11.9
21acta1-related nemaline myopathy11.9
22cfl2-related nemaline myopathy11.9
23kbtbd13-related nemaline myopathy11.9
24klhl41-related nemaline myopathy11.9
25neb-related nemaline myopathy11.9
26tpm2-related nemaline myopathy11.9
27tpm3-related nemaline myopathy11.9
28lmod3-related nemaline myopathy11.9
29klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism11.6
30intranuclear rod myopathy11.2
31actin-accumulation myopathy11.0
32cardiomyopathy10.4
33respiratory failure10.2
34atrioventricular septal defect10.1ACTA1, TPM2
35dilated cardiomyopathy10.1
36congenital myopathy10.0
37hypothyroidism10.0
38hypotonia10.0
39cardiac rupture10.0ACTA1, TPM2, TPM3
40myopathy, congenital, with fiber-type disproportion10.0ACTA1, TPM3
41microcephaly and chorioretinopathy 210.0ACTA1, TPM2, TPM3
42microcephaly and chorioretinopathy 110.0ACTA1, CFL2, NEB
43systemic lupus erythematosus9.8
44multiple myeloma9.8
45gastroesophageal reflux9.8
46central core disease9.8
47escobar syndrome9.8
48muscle disorders9.8
49myasthenia gravis9.8
50temporomandibular ankylosis9.8

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



Diseases related to nemaline myopathy

Symptoms & Phenotypes for Nemaline Myopathy

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.5ACTA1, CFL2, KLHL40, LMOD3, NEB, TNNT1

Drugs & Therapeutics for Nemaline Myopathy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1tyrosineNutraceuticalPhase 2699

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of TNNT1-Myopathy With L-Tyrosine.Unknown statusNCT02035501Phase 2
2Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
3Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Nemaline Myopathy


Cochrane evidence based reviews: myopathies, nemaline

Genetic Tests for Nemaline Myopathy

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Genetic tests related to Nemaline Myopathy:

id Genetic test Affiliating Genes
1 Nemaline Myopathy27 24 TPM3
2 Nemaline Bodies27

Anatomical Context for Nemaline Myopathy

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MalaCards organs/tissues related to Nemaline Myopathy:

36
Skeletal muscle, Heart

Publications for Nemaline Myopathy

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Articles related to Nemaline Myopathy:

(show top 50)    (show all 337)
idTitleAuthorsYear
1
Craniofacial Manifestations in Severe Nemaline Myopathy. (28134641)
2017
2
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. (28131200)
2017
3
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. (27890461)
2017
4
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. (28490364)
2017
5
Craniofacial Manifestations in Severe Nemaline Myopathy. (28468212)
2017
6
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions. (28516742)
2017
7
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. (28017374)
2017
8
Sarcomere Dysfunction in Nemaline Myopathy. (28436394)
2017
9
Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. (27102768)
2016
10
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). (27528495)
2016
11
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. (26825889)
2016
12
Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline myopathy: a case report. (27644222)
2016
13
The de novo missense mutation N117S in skeletal muscle I+a89actinA 1 causes a mild form of congenital nemaline myopathy. (27357517)
2016
14
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. (27215641)
2016
15
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. (26754003)
2016
16
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. (27105866)
2016
17
Autologous stem cell transplantation in a patient with sporadic late-onset nemaline myopathy and monoclonal gammopathy: First Moroccan experience. (27818064)
2016
18
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. (27242277)
2016
19
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. (26891371)
2016
20
Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. (27429059)
2016
21
Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy. (27580764)
2016
22
A case of congenital myopathy (Nemaline myopathy). (27727847)
2016
23
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. (25721947)
2015
24
Review of Cardiac Disease in Nemaline Myopathy. (26507755)
2015
25
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. (25931053)
2015
26
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. (25890230)
2015
27
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy. (27858751)
2015
28
Sudden cardiac arrest in a child with nemaline myopathy. (25888334)
2015
29
Nemaline myopathy and heart failure: role of ivabradine; a case report. (25597856)
2015
30
Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle. (26348902)
2015
31
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25654555)
2015
32
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. (25949787)
2015
33
Two novel nebulin variants in an adult patient with congenital nemaline myopathy. (25740301)
2015
34
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. (26035871)
2015
35
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. (26197980)
2015
36
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. (26123491)
2015
37
Clinical utility gene card for: Nemaline myopathy. (25712079)
2015
38
LMOD3: the "missing link" in nemaline myopathy? (26337340)
2015
39
Potential causes of sudden cardiac death in nemaline myopathy. (26416716)
2015
40
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish. (25430424)
2015
41
Sexually dimorphic myofilament function in a mouse model of nemaline myopathy. (25261348)
2014
42
Clinical and pathological features of patients with nemaline myopathy. (24788569)
2014
43
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy. (24447884)
2014
44
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. (24689076)
2014
45
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. (24725366)
2014
46
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25250574)
2014
47
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. (25088345)
2014
48
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy. (24610938)
2014
49
Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. (25381859)
2014
50
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. (24960163)
2014

Variations for Nemaline Myopathy

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Clinvar genetic disease variations for Nemaline Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KLHL41NM_ 006063.2(KLHL41): c.641delA (p.Asn214Thrfs)deletionPathogenic/ Likely pathogenicrs730882235GRCh37Chr 2, 170366929: 170366929

Expression for genes affiliated with Nemaline Myopathy

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Search GEO for disease gene expression data for Nemaline Myopathy.

GO Terms for genes affiliated with Nemaline Myopathy

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1muscle thin filament tropomyosinGO:000586210.4TPM2, TPM3
2actin filamentGO:000588410.3ACTA1, TPM2, TPM3
3sarcomereGO:003001710.2ACTA1, NEB
4A bandGO:003167210.1KLHL40, LMOD3
5I bandGO:003167410.1CFL2, KLHL40
6actin cytoskeletonGO:00156299.9ACTA1, CFL2, NEB, TPM3
7M bandGO:00314309.9KLHL41, LMOD3
8stress fiberGO:00017259.9ACTA1, TPM3
9Cul3-RING ubiquitin ligase complexGO:00314639.4KBTBD13, KLHL40, KLHL41
10cytoskeletonGO:00058568.1ACTA1, CFL2, KLHL41, LMOD3, NEB, TPM2
11cytoplasmGO:00057377.0ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:000693610.0ACTA1, TPM2, TPM3
2actin filament organizationGO:000701510.0CFL2, TPM2, TPM3
3sarcomere organizationGO:00452149.9CFL2, KLHL41
4muscle filament slidingGO:00300499.2ACTA1, NEB, TNNT1, TPM2, TPM3
5skeletal muscle fiber developmentGO:00487418.5ACTA1, KLHL40, KLHL41, LMOD3

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:000377910.1NEB, TPM2, TPM3
2structural constituent of muscleGO:000830710.1NEB, TPM2, TPM3
3actin filament bindingGO:005101510.1CFL2, TPM2, TPM3
4tropomyosin bindingGO:000552310.0LMOD3, TNNT1
5ubiquitin-protein transferase activityGO:00048428.6KBTBD13, KLHL40, KLHL41

Sources for Nemaline 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