alexa Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Molecular Biomarkers & Diagnosis

Author(s): Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, , Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, , Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, , Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA,

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Abstract Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy is a genetic and phenotypic variant of classical CMT, characterized by intermediate nerve conduction velocities and histological evidence of both axonal and demyelinating features. We report two unrelated families with intermediate CMT linked to a novel locus on chromosome 1p34-p35 (DI-CMTC). The combined haplotype analysis in both families localized the DI-CMTC gene within a 6.3-cM linkage interval flanked by markers D1S2787 and D1S2830. The functional and positional candidate genes, Syndecan 3 (SDC3), and lysosomal-associated multispanning membrane protein 5 (LAPTM5) were excluded for pathogenic mutations.
This article was published in Am J Hum Genet and referenced in Journal of Molecular Biomarkers & Diagnosis

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