MCID: INT109
MIFTS: 10

Intranuclear Rod Myopathy malady

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Summaries for Intranuclear Rod Myopathy

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21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with intranuclear rod myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.

MalaCards: Intranuclear Rod Myopathy, also known as nemaline myopathy with exclusively intranuclear rods, is related to myopathy and nemaline myopathy. An important gene associated with Intranuclear Rod Myopathy is ACTA1 (actin, alpha 1, skeletal muscle).

Aliases & Classifications for Intranuclear Rod Myopathy

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21Genetics Home Reference
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Aliases & Descriptions:

intranuclear rod myopathy 21
nemaline myopathy with exclusively intranuclear rods 21
intranuclear nemaline rod myopathy 21


Related Diseases for Intranuclear Rod Myopathy

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17GeneCards, 18GeneDecks
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Diseases related to Intranuclear Rod Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.6
2nemaline myopathy10.3
3autonomic dysfunction10.3

Symptoms for Intranuclear Rod Myopathy

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Drugs & Therapeutics for Intranuclear Rod Myopathy

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Intranuclear Rod Myopathy

Genetic Tests for Intranuclear Rod Myopathy

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Anatomical Context for Intranuclear Rod Myopathy

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Animal Models for Intranuclear Rod Myopathy or affiliated genes

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Publications for Intranuclear Rod Myopathy

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52PubMed
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Articles related to Intranuclear Rod Myopathy:

idTitleAuthorsYear
1
Intranuclear rods myopathy with autonomic dysfunction. (23102861)
2013
2
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. (17705262)
2007
3
Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy. (12775505)
2003
4
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. (9132135)
1997
5
Infantile intranuclear rod myopathy. (9010792)
1997

Variations for Intranuclear Rod Myopathy

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Expression for genes affiliated with Intranuclear Rod Myopathy

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Intranuclear Rod Myopathy

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Pathways for genes affiliated with Intranuclear Rod Myopathy

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Compounds for genes affiliated with Intranuclear Rod Myopathy

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GO Terms for genes affiliated with Intranuclear Rod Myopathy

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Products for genes affiliated with Intranuclear Rod Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Intranuclear Rod Myopathy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet