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Gene Review

CHRND  -  cholinergic receptor, nicotinic, delta...

Homo sapiens

Synonyms: ACHRD, Acetylcholine receptor subunit delta, CMS2A, FCCMS, SCCMS
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Disease relevance of CHRND


High impact information on CHRND


Biological context of CHRND

  • CHRND mutations are a rare cause for CMS but should be considered in patients with a severe, early onset disease form, clinically resembling a rapsyn phenotype with recurrent episodic apnoeas [2].
  • The CHRND gene was screened for mutations by RFLP, long-range PCR and sequence analysis [2].
  • Heterozygously to a 2.2 kb microdeletion disrupting the CHRND gene, we identified a novel point mutation in the long cytoplasmic loop, CHRND E381K [2].


  1. Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis. Giraud, M., Eymard, B., Tranchant, C., Gajdos, P., Garchon, H.J. Genes Immun. (2004) [Pubmed]
  2. CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. M??ller, J.S., Baumeister, S.K., Schara, U., Cossins, J., Krause, S., von der Hagen, M., Huebner, A., Webster, R., Beeson, D., Lochm??ller, H., Abicht, A. Brain (2006) [Pubmed]
  3. Dinucleotide repeat polymorphism at the CHRND locus. Landa, B.L., Reynolds, J.E., Beeson, D., Diehl, S.R. Hum. Mol. Genet. (1994) [Pubmed]
  4. Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family. Jarman, P.R., Davis, M.B., Hodgson, S.V., Marsden, C.D., Wood, N.W. Brain (1997) [Pubmed]
  5. Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma. Barr, F.G., Biegel, J.A., Sellinger, B., Womer, R.B., Emanuel, B.S. Genes Chromosomes Cancer (1991) [Pubmed]
  6. Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17. Beeson, D., Jeremiah, S., West, L.F., Povey, S., Newsom-Davis, J. Ann. Hum. Genet. (1990) [Pubmed]
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