Linked Life Data

10502832

Source:http://linkedlifedata.com/resource/pubmed/id/10502832

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pubmed-article:10502832pubmed:abstractTextHereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a interfamilial and intrafamilial clinical variation, ranging from asymptomatic expression to severe muscular weakness and atrophy. Recently point mutations in the early growth response 2 gene (EGR2/Krox-20) have been associated with hereditary myelinopathies. We investigated for mutations at the EGR2 gene a patient with severe CMT1 phenotype. Direct sequencing of EGR2 gene showed a heterozygous A T transversion at nucleotide 1064 that predicts an Asp305Val substitution within the first zinc-finger domain. The finding of a novel EGR2 mutation associated with a different phenotype confirms that peripheral neuropathies represent a continuum spectrum of related disorders due to an underlying defect in myelination.lld:pubmed
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pubmed-article:10502832pubmed:copyrightInfoCopyright 1999 Wiley-Liss, Inc.lld:pubmed
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pubmed-article:10502832pubmed:dateRevised2006-11-15lld:pubmed
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pubmed-article:10502832pubmed:articleTitleA novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.lld:pubmed
pubmed-article:10502832pubmed:affiliationDepartment of Oncology, Biology and Genetics, University of Genova, Genova; Italylld:pubmed
pubmed-article:10502832pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:10502832pubmed:publicationTypeCase Reportslld:pubmed
pubmed-article:10502832pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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