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Neurogenetics. 2007 Nov;8(4):257-62. Epub 2007 Aug 24.

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.

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  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm 604B, Houston, TX 77030, USA.

Abstract

Mutations in the EGR2 gene cause a spectrum of Charcot-Marie-Tooth disease and related inherited peripheral neuropathies. We ascertained ten consecutive patients with various EGR2 mutations, report a novel de novo mutation, and provide longitudinal clinical data to characterize the natural history of the peripheral neuropathy. We confirmed that respiratory compromise and cranial nerve dysfunction are commonly associated with EGR2 mutations and can be useful in guiding molecular diagnosis. We also contrast morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain.

PMID:
17717711
DOI:
10.1007/s10048-007-0094-0
[PubMed - indexed for MEDLINE]
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