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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
The early growth response 2 gene (EGR2) is part of a multigene family encoding Cys2His2 type zinc-finger proteins and may play a role in the regulation of cellular proliferation1,2. Egr2, (also knownExpand
Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination
Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP),Expand
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
The early growth response 2 gene ( EGR2 ) is a Cys2His2zinc finger transcription factor which is thought to play a role in the regulation of peripheral nervous system myelination. This idea is basedExpand
Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype
Background: Mutations in the early growth response 2 (EGR2) gene have recently been found in patients with congenital hypomyelinating neuropathy and Charcot-Marie-Tooth type 1 (CMT1) disease.Expand
Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
The authors report the long-term prospective follow-up of two unrelated females with congenital hypomyelinating neuropathy (CHN) and review previously reported cases. The authors' first patientExpand
Unusual electrophysiological findings in X‐linked dominant Charcot‐Marie‐Tooth disease
X‐linked Charcot‐Marie‐Tooth disease (CMTX) is the second most common form of Charcot‐Marie‐Tooth disease. Variable histopathological and nerve conduction velocity (NCV) results have suggested eitherExpand
Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot‐Marie‐Tooth disease
The myelin protein zero gene (MPZ) maps to chromosome 1q22‐q23 and encodes the most abundant peripheral nerve myelin protein. The Po protein functions as a homophilic adhesion molecule in myelinExpand
Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms.
Hereditary peripheral neuropathies, among the most common genetic disorders in humans, are a complex, clinically and genetically heterogeneous group of disorders that produce progressiveExpand
Molecular Mechanisms for CMT1A Duplication and HNPP Deletion
ABSTRACT: As the best characterized human genomic disorders, 118 CMT1A and HNPP illustrate several common mechanistic features of genomic rearrangements. These features include the following: (1)Expand
Comparison of Single-Strand Conformation Polymorphism and Heteroduplex Analysis for Detection of Mutations in Charcot-Marie-Tooth Type 1 Disease and Related Peripheral Neuropathies
To compare the sensitivity of the mutation detection techniques single-strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA), we analyzed a cohort of 73 patients with aExpand