{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T03:54:29Z","timestamp":1727063669665},"reference-count":44,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T00:00:00Z","timestamp":1417478400000},"content-version":"unspecified","delay-in-days":3045,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:sec id=\"S0317167100005199_abs1\"><jats:title>Background:<\/jats:title><jats:p>Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Based on neurophysiological and neuropathological criteria CMT has been sub-classified into two main types: demyelinating and axonal. Furthermore, it is genetically heterogeneous with autosomal dominant, autosomal recessive (AR) and X-linked modes of inheritance. Thus far, seven genes have been identified in association with the demyelinating AR-CMT disease. We hereby report our clinical and molecular genetic findings in a consanguineous family with AR-CMT.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100005199_abs2\"><jats:title>Methods:<\/jats:title><jats:p>Two young sisters with AR-CMT and other non-affected family members were clinically and electrophysiologically evaluated and then molecular genetic investigation was carried out in order to identify the pathogenic mutation.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100005199_abs3\"><jats:title>Results:<\/jats:title><jats:p>Following an initial indication for linkage of the family to the CMT4A locus on chromosome 8, we sequenced the Ganglioside-induced differentiation-associated protein 1 (GDAP1) gene and identified a single nucleotide deletion in exon 3 that is associated with AR-CMT in the family.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100005199_abs4\"><jats:title>Conclusion:<\/jats:title><jats:p>We identified a novel GDAP1 439delA mutation that is associated with AR-CMT in a consanguineous family of Iranian descent with two affected young girls and a history in other members of the family.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0317167100005199","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T15:30:15Z","timestamp":1418398215000},"page":"311-316","source":"Crossref","is-referenced-by-count":6,"title":["A Novel GDAP1 Mutation 439delA is Associated with Autosomal Recessive CMT 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