NEW GENE MUTATIONS FOR THE DIAGNOSIS OF ARTHROGRYPOSIS MULTIPLEX CONGENITA AND CONGENITAL PERIPHERAL NEUROPATHIES DISEASE

摘要

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