charcot-marie-tooth disease :

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charcot-marie-tooth disease

  • n  a form of neuropathy that can begin between childhood and young adulthood; characterized by weakness and atrophy of the muscles of the hands and lower legs; progression is slow and individuals affected can have a normal life span; inheritance is X-linked recessive or X-linked dominant
News & Articles

  • Whole genome or exome sequencing: An individual insight
    Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds research in BioMed Central's open access journal Genome Medicine. The research compares several sequencing technologies in the same individual with Charcot-Marie-Tooth disease, and shows that sequencing the coding regions alone at high depth of coverage can identify the genetic variation ...
    June 27, 2013 - EurekAlert!

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