Still, the brachial plexus involvement is of the lower plexus onl

Still, the brachial plexus involvement is of the lower plexus only and the lymphadenopathy is extensive. This discrepancy and the lack of pain suggest that compression is not the most likely mechanism. Post-infectious demyelination caused by EBV infection analogous to brachial

neuritis needs to be considered. Confounding both of these diagnoses is the lack of pain at any time during the course of her illness. Furthermore, post-infectious brachial plexopathies more typically involve upper parts of the plexus. Other diagnosis that we considered in this patient were: monomelic amyotrophy/Hirayama Inhibitors,research,lifescience,medical disease in which a history of progression for several years prior to stabilization and a lack lymphadenopathy and demyelination on nerve conduction studies are expected; multifocal Inhibitors,research,lifescience,medical motor neuropathy characterized by lack of sensory involvement and positive response to

IVIG; multifocal CIDP characterized by response to IVIG and lack of EB positive lymphadenopathy; and hereditary predisposition to pressure palsies with expected positive family history, conduction blocks at compressive sites, and histories of nerve palsies with spontaneous improvement. Our patient did not have the characteristics Inhibitors,research,lifescience,medical of these disorders but had onset of her neurological disorder 2-3 weeks after a viral infection suggesting a causal relationship and points out the need to include EBV infection with lymphadenopathy in the differential diagnosis of lesions involving the lower trunk of the brachial plexus and presenting with

painless amyotrophy Inhibitors,research,lifescience,medical of the hand.

Charcot-Marie-Tooth type 1X (CMT1X) disease is inherited as an X-linked dominant trait. Female CMT1X patients are usually mildly affected or even asymptomatic carriers of mutations in the GJB1 gene coding for a gap junction protein called connexin-32 (Cx32). In this report, a five-generation CMT1X family is described from which the new mutation in the GJB1 gene Cys179Gly was Inhibitors,research,lifescience,medical identified. The Cys179Gly mutation is located in the highly conservative domain of the Cx32 protein. Previous functional studies performed in the OSI-744 oocyte system have shown that point mutations in the highly conserved Cx32 cysteine residues result in a complete loss of function of the gap junction. However, despite severe biochemical defects, the Cys179Gly BIX 01294 in vitro mutation segregates with a mild CMT1X phenotype. This study further documents a discrepancy between biochemical effects of GJB1 mutations and the CMT1X phenotype. Keywords: CMT1X disease, novel GJB1 gene mutation, Cx32 protein, loss of function mutations Introduction Charcot-Marie-Tooth disease (CMT) is one of the most common hereditary neuromuscular disorders, occurring with a frequency of 1:2500 (1). After CMT1A, the X-linked dominant form of CMT (CMT1X) is the second most common disease caused mutations on the Xq13.

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