Gene Mutations for the Diagnosis of Arthrogryposis Multiplex Congenita and Congenital Peripheral Neuropathies Disease
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Dec 18, 2014
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Dec 18, 2013
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Abstract
The present invention relates to a method of identifying a subject having or at risk of having or developing arthrogryposis multiplex congenita and/or congenital peripheral neuropathy, comprising determining, in a sample obtained from said subject, the presence or absence of a single nucleotide variant (SNV) in CNTNAP1, ADCY6, LGI4 or LMOD3 genes
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