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A new gene for the Charcot-Marie-Tooth disorder.
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2
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
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3
Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.
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Phenotype of Charcot-Marie-Tooth disease Type 2.
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[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease].
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Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
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7
Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2.
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Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.
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9
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
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Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!
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