Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B


rs119103267 in MFN2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B PMID 26085578 2015 Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

PMID 26955893 2016 Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

PMID 20350294 2010 MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

PMID 18458227 2008 Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

PMID 21715711 2011 Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

PMID 16835246 2006 Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.