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CARPHOLOGY by A Fo Ben

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CMT spelled out

The race to sequence the whole genome for neurological disorders has started. An individual from a Charcot–Marie–Tooth (CMT) family had his entire genome detailed, identifying a potential mutation in SH3TC2 (the SH3 domain and tetratricopeptide repeats 2 gene). Genotyping the family demonstrated that those individuals with a mutation in both copies of SH3TC2 had the CMT phenotype. Interestingly, those who were heterogenous for SH3TC2 showed a greater risk of mononeuropathies, such as carpal tunnel syndrome. This is an eloquent description of how state of the art research genetics can provide clinically relevant results.

The plural of anecdote is not data

Learning from anecdotes—case by case—is a very slow process. A Fo Ben learned that charging …

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