MCID: INT109
MIFTS: 12

Intranuclear Rod Myopathy malady

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Summaries for Intranuclear Rod Myopathy

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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 based summary: 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). Affiliated tissues include skeletal muscle.

Aliases & Classifications for Intranuclear Rod Myopathy

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Intranuclear Rod Myopathy, Aliases & Descriptions:

Name: Intranuclear Rod Myopathy 21 62
Nemaline Myopathy with Exclusively Intranuclear Rods 21 62
 
Intranuclear Nemaline Rod Myopathy 21 62


Related Diseases for Intranuclear Rod Myopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1myopathy10.7
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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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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MalaCards organs/tissues related to Intranuclear Rod Myopathy:

32
Skeletal muscle

Animal Models for Intranuclear Rod Myopathy or affiliated genes

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Publications for Intranuclear Rod Myopathy

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Articles related to Intranuclear Rod Myopathy:

idTitleAuthorsYear
1
Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event. (24787270)
2014
2
Intranuclear rods myopathy with autonomic dysfunction. (23102861)
2013
3
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. (17705262)
2007
4
Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy. (12775505)
2003
5
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. (9132135)
1997
6
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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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

Sources for Intranuclear Rod Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet