New PDF release: Charcot-Marie-Tooth Disease - A Bibliography and Dictionary

By Philip M. Parker

ISBN-10: 0497113503

ISBN-13: 9780497113506

ISBN-10: 1429495871

ISBN-13: 9781429495875

In March 2001, the nationwide Institutes of health and wellbeing issued the next caution: "The variety of websites delivering health-related assets grows each day. Many websites supply worthwhile details, whereas others could have details that's unreliable or misleading." in addition, due to the quick raise in Internet-based info, many hours should be wasted looking, making a choice on, and printing. due to the fact basically the smallest fraction of knowledge facing Charcot-Marie-Tooth affliction is listed in se's, equivalent to www.google.com or others, a non-systematic method of net learn should be not just time eating, but additionally incomplete. This booklet was once created for doctors, scholars, and participants of most of the people who are looking to behavior scientific examine utilizing the main complicated instruments on hand and spending the smallest amount of time doing so.

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Read e-book online Charcot-Marie-Tooth Disease - A Bibliography and Dictionary PDF

In March 2001, the nationwide Institutes of future health issued the next caution: "The variety of sites delivering health-related assets grows each day. Many websites supply priceless info, whereas others could have details that's unreliable or deceptive. " moreover, as a result fast bring up in Internet-based details, many hours should be wasted looking, deciding upon, and printing.

Additional info for Charcot-Marie-Tooth Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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The other mutations replace arginine with tryptophan at position 136 (Arg136Trp) or at position 127 (Arg127Trp). These mutations alter a region of the protein that is critical for heat shock protein beta-1 to function properly. It not clear how these alterations produce axon abnormalities that are characteristic of type 2F Charcot-Marie-Tooth disease. Researchers suggest that HSPB1 mutations alter the assembly of neurofilaments or allow misfolded proteins to accumulate, which impairs nerve axons and disrupts the transmission of nerve impulses.

2003 Apr 15;100(8):4492-7. Epub 2003 Mar 31. PubMed citation • Robinson FL, Dixon JE. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B CharcotMarie-Tooth disease. J Biol Chem. 2005 Sep 9;280(36):31699-707. Epub 2005 Jul 5. PubMed citation • Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. ” NDRG1 is the gene's official symbol. The NDRG1 gene is also known by other names, listed below.

What Conditions Are Related to the MPZ Gene? Charcot-Marie-Tooth Disease - Caused by Mutations in the MPZ Gene Researchers have identified about 90 MPZ mutations that cause a form of Charcot-MarieTooth known as type 1B. Many of these mutations alter the extracellular domain by changing one of the building blocks (amino acids) used to make myelin protein zero. The altered extracellular domain probably impairs interactions with other myelin components, which may disrupt the formation and maintenance of the myelin sheath.

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Charcot-Marie-Tooth Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker


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