Congenital hypomyelinating neuropathy.

Novel MPZ mutations and congenital hypomyelinating neuropathy.

We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve biopsy. The cases illustrate the clinically heterogeneity that exists even within early-onset forms of...

A double point mutation in the DNA-binding region of Egr2 switches its function from inhibition to induction of proliferation: A potential contribution to the development of congenital hypomyelinating neuropathy.

Mutations in the DNA-binding domain of EGR2 are associated with severe autosomal dominant forms of peripheral neuropathy. In this study, we show that one such Egr2 mutant (S382R, D383Y), when expressed in Schwann cells in vitro, is not transcriptionally inactive but retains residual wild-type Egr2 functions, including inhibition of transforming growth factor-beta-induced Schwann cell death and ...

Congenital Amyelinating Neuropathy: A Neuropathology Case Report and Review of Prior Cases

Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy characterized by non-progressive weakness, areflexia, hypotonia, slow nerve conduction velocities, and hypo-, or in some cases, amyelination. Patients usually present in infancy and may die within the first several years of life, usually after infectious complication. Infantile CHN presents later and patients survive se...

The Elemental Analysis of Various Classes of Chemical Compunds Using CHN

De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.

To date, 12 cases of heterozygous Ser72Leu mutations in the peripheral myelin protein 22 have been reported in patients suffering from severe demyelinating form of Charcot-Marie-Tooth disease (CMT1) and congenital hypomyelinating neuropathy (CHN) [MIM# 605253]. In the present study we report two cases of de novo S72L mutations in the PMP22 gene detected in patients of Polish origin suffering fr...