MCID: CNG579
MIFTS: 15

Congenital Nemaline Myopathy

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Congenital Nemaline Myopathy

MalaCards integrated aliases for Congenital Nemaline Myopathy:

Name: Congenital Nemaline Myopathy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA457074

Summaries for Congenital Nemaline Myopathy

MalaCards based summary: Congenital Nemaline Myopathy is related to severe congenital nemaline myopathy and intermediate congenital nemaline myopathy. Affiliated tissues include skeletal muscle and brain.

Related Diseases for Congenital Nemaline Myopathy

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3 Nemaline Myopathy 2
Nemaline Myopathy 5 Nemaline Myopathy 6
Nemaline Myopathy 1 Nemaline Myopathy 4
Nemaline Myopathy 7 Nemaline Myopathy 8
Nemaline Myopathy 9 Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy Severe Congenital Nemaline Myopathy
Congenital Nemaline Myopathy

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 severe congenital nemaline myopathy 11.7
2 intermediate congenital nemaline myopathy 11.2
3 typical congenital nemaline myopathy 11.2
4 nemaline myopathy 10.8
5 myopathy 10.8
6 nemaline myopathy 3 10.5
7 hypotonia 10.4
8 batten-turner congenital myopathy 10.3
9 respiratory failure 10.3
10 dilated cardiomyopathy 10.2
11 neuromuscular disease 10.2
12 muscular dystrophy 10.2
13 beckwith-wiedemann syndrome 10.0
14 cardiomyopathy, familial hypertrophic, 1 10.0
15 spinal muscular atrophy, type i 10.0
16 minicore myopathy with external ophthalmoplegia 10.0
17 nemaline myopathy 2 10.0
18 ceroid lipofuscinosis, neuronal, 5 10.0
19 muscular dystrophy, duchenne type 10.0
20 orthostatic intolerance 10.0
21 arthrogryposis multiplex congenita 6 10.0
22 distal arthrogryposis 10.0
23 scoliosis 10.0
24 muscular disease 10.0
25 limb-girdle muscular dystrophy 10.0
26 hypertrophic cardiomyopathy 10.0
27 ventricular septal defect 10.0
28 heart septal defect 10.0
29 movement disease 10.0
30 adult-onset nemaline myopathy 10.0
31 lymphangiectasis 10.0
32 tremor 10.0

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



Diseases related to Congenital Nemaline Myopathy

Symptoms & Phenotypes for Congenital Nemaline Myopathy

Drugs & Therapeutics for Congenital Nemaline Myopathy

Search Clinical Trials, NIH Clinical Center for Congenital Nemaline Myopathy

Genetic Tests for Congenital Nemaline Myopathy

Anatomical Context for Congenital Nemaline Myopathy

Organs/tissues related to Congenital Nemaline Myopathy:

MalaCards : Skeletal Muscle, Brain

Publications for Congenital Nemaline Myopathy

Articles related to Congenital Nemaline Myopathy:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Congenital Nemaline Myopathy with Dense Protein Masses. 62
35139532 2022
2
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings. 62
35249790 2022
3
Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene. 62
32008911 2020
4
[Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate]. 62
31104670 2019
5
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. 62
30291184 2018
6
A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult. 62
29731279 2018
7
Deep Brain Stimulation in Rare Inherited Dystonias. 62
27743838 2016
8
Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy. 62
27580764 2016
9
The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy. 62
27357517 2016
10
Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle. 62
26348902 2015
11
Two novel nebulin variants in an adult patient with congenital nemaline myopathy. 62
25740301 2015
12
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. 62
25890230 2015
13
Sudden cardiac arrest in a child with nemaline myopathy. 62
25888334 2015
14
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. 62
25088345 2014
15
A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations. 62
23305948 2013
16
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. 62
22407809 2012
17
A case of nemaline myopathy with associated dilated cardiomyopathy and respiratory failure. 62
22188717 2011
18
Reduced thin filament length in nebulin-knockout skeletal muscle alters isometric contractile properties. 62
19295172 2009
19
An infant with congenital nemaline myopathy and hypertrophic cardiomyopathy. 62
19155574 2008
20
Functional effects of nemaline myopathy mutations on human skeletal alpha-actin. 62
18477565 2008
21
[An autopsy case of dilated cardiomyopathy associated with congenital nemaline myopathy]. 62
18323161 2008
22
[An adulthood progressive case of congenital nemaline myopathy showing rimmed vacuoles in muscle biopsy and diffuse neurogenic changes on electromyography]. 62
15384708 2004
23
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 62
12207937 2002
24
Unusual fatty infiltration of the soleus muscle in a patient with congenital nemaline myopathy: fat-suppression muscle MRI. 62
11929189 2002
25
Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report. 62
11748499 2001
26
Nemaline myopathy: a clinical study of 143 cases. 62
11558787 2001
27
[Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report]. 62
11002727 2000
28
Nemaline myopathy and cardiomyopathy. 62
10328285 1999
29
[Clinical and pathological studies on nemaline myopathy in adulthood]. 62
10078028 1998
30
Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy. 62
9484391 1998
31
Severe congenital nemaline myopathy: a personal perspective. 62
9526359 1998
32
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. 62
8580725 1995
33
Pregnancy and delivery in congenital nemaline myopathy. 62
7660780 1995
34
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. 62
7767098 1995
35
[Severe and mild forms of nemaline myopathy: a report of three cases]. 62
8166407 1993
36
A new case of severe congenital nemaline myopathy. 62
8155933 1993
37
Intranuclear rods in severe congenital nemaline myopathy. 62
8232959 1993
38
[3 examples of fetal genetic neuromuscular disorders which lead to hydramnion]. 62
8492834 1993
39
Unusual course of nemaline myopathy. 62
1300189 1992
40
Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction. 62
1785661 1991
41
Respiratory deterioration during growth hormone therapy in a case of congenital nemaline myopathy. 62
2079082 1990
42
[A case of severe infantile form of congenital nemaline myopathy with extensive fatty replacement of the skeletal muscles]. 62
2177691 1990
43
Genetics of congenital nemaline myopathy: a study of 10 families. 62
2213842 1990
44
[Clinical and pathological studies on two patients with adult-onset nemaline myopathy]. 62
2173650 1990
45
Alpha-actinin and myosin light chains in congenital nemaline myopathy. 62
2360957 1990
46
Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy. 62
2178616 1990
47
Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study. 62
2295510 1990
48
Electromyography in congenital nemaline myopathy. 62
2674705 1989
49
Congenital nemaline myopathy. A clinical follow-up of twelve patients. 62
2926439 1989
50
Normal cardiac contractility in patients with congenital nemaline myopathy. 62
3221984 1988

Variations for Congenital Nemaline Myopathy

Expression for Congenital Nemaline Myopathy

Search GEO for disease gene expression data for Congenital Nemaline Myopathy.

Pathways for Congenital Nemaline Myopathy

GO Terms for Congenital Nemaline Myopathy

Sources for Congenital Nemaline Myopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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