amyotrophic neuralgia

Summary
Synonym
  • neuralgic amyotrophy
Definition
A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25.
Super Class
autosomal dominant disease brachial plexus neuropathy
External Links
Disease Ontology
DOID:10383
Mondo Disease Ontology
MeSH
UMLS
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024