Article
Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.
Neurology - 12 Jul 2011
Polke J M, Laurá M, Pareyson D, Taroni F, Milani M, Bergamin G, Gibbons V S, Houlden H, Chamley S C, Blake J, Devile C, Sandford R, Sweeney M G, Davis M B, Reilly M M
Abstract excerpt
OBJECTIVE: Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Over 50 mutations have been reported, mainly causing autosomal dominant disease, though families with homozygous or compound heterozygous mutations have been described. We present 3 families with early-onset CMT2 associated with compound heterozygous MFN2 mutations. Transcriptional analysis was...
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