ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

doi:10.1002/ajmg.a.33785

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Article

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

American journal of medical genetics. Part A - 1 Jan 2011

Cossée Mireille, Faivre Laurence, Philippe Christophe, Hichri Heifa, de Saint-Martin Anne, Laugel Vincent, Bahi-Buisson Nadia, Lemaitre Jean-François, Leheup Bruno, Delobel Bruno, Demeer Bénédicte, Poirier Karine, Biancalana Valérie, Pinoit Jean-Michel, Julia Sophie, Chelly Jamel, Devys Didier, Mandel Jean-Louis

Abstract excerpt

Mutations in the ARX gene cause both nonsyndromic and several forms of syndromic mental retardation (MR). Two polyalanine (polyA) expansions of ARX are recurrent mutations. The most common one, the c.428_451dup, is associated with a wide spectrum of phenotypes, ranging from the most severe West syndrome to Partington syndrome (MR and hand dystonia), and even nonsyndromic X-linked mental retardation (NS-XLMR)....

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PMID: 21204215
DOI: 10.1002/ajmg.a.33785

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ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.PMID 21204215Read ↗

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