ArticleInflammation research : official journal of the European Histamine Research Society ... [et al.]2009
Genetically determined neuropathy (CMT 1A) accompanied by immune dysfunction: a case report.
Article in Inflammation research : official journal of the European Histamine Research Society ... [et al.], 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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1 citing paper in PubMed, 4 citations in OpenAlex.
- Psychiatric symptoms of patients with primary mitochondrial DNA disorders.Behavioral and brain functions : BBF · 2012Article
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6 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Peripheral Myelin Protein 22 (PMP22) is mostly expressed in Schwann cells where it is essential in the compaction of myelin. The duplication of the PMP22 gene results in a hereditary demyelinating neuropathy of the Charcot-Marie-Tooth type 1A (CMT1A). So far there are only a few case reports suggesting that dysimmune mechanisms may take part in the pathophysiology of this disease. We describe three siblings carrying the duplication of the PMP22 gene, with a significant reduction of serum immunoglobulin G levels in all three cases and sural nerve vasculitis in the two women, which supports the proposition, that immune dysfunction may accompany this disease in some cases.
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