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Article

Increased gene dosage of myelin protein zero causes Charcot‐Marie‐Tooth disease

31 Oct 2011

Abstract excerpt

OBJECTIVE: On the basis of the hypothesis that copy number mutations of the genes encoding myelin compact proteins are responsible for myelin disorders in humans, we have explored the possibility of copy number mutations in patients with Charcot-Marie-Tooth disease (CMT) whose responsible genes remain undefined. METHODS: A family with 6 affected members in 3 consecutive generations, presenting with motor and...

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PMID: 22275255
DOI: 10.1002/ana.22658

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