The neurologists analyzed a father and son with CMT1. They did not carry a mutation in any of the five genes known to result in CMT1.
Brain published the findings.
Here are five observations:
1. The researchers connected myelin protein mutations to Charcot-Marie-Tooth Disease.
2. Via complex genetic sequencing of the father’s 20,000 genes, researchers discovered 49 mutations potentially responsible for CMT.
3. The team zoned in on peripheral myelin protein 2 gene, which could slow nerve conduction and result in weakness in the hands and feet.
4. The researchers worked with Belgium-based University of Antwerp to see if other CMT patients had mutations in PMP2. They found an Austrian family who shared the same mutation in PMP2.
5. The researchers concluded their findings will help neurologists understand underlying genetics of patients’ neuropathy.
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