Variant: rs28940291 

    present in Gene: MFN2
    present in Chromosome: 1
    Position on Chromosome: 11992660
    Alleles of this Variant: G/A

rs28940291 in MFN2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A PMID 22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PMID 15549395 2005 Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

PMID 16762064 2006 Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

PMID 15064763 2004 Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

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

rs28940291 in MFN2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B PMID 21715711 2011 Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

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

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 26085578 2015 Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

rs28940291 in MFN2 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 16714318 2006 MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

PMID 21508331 2011 MFN2 mutations cause severe phenotypes in most patients with CMT2A.

PMID 15549395 2005 Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

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

PMID 15064763 2004 Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

PMID 18996695 2008 Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.

PMID 22492563 2012 MFN2 mutations cause compensatory mitochondrial DNA proliferation.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 19889647 2010 Phenotypic spectrum of MFN2 mutations in the Spanish population.

PMID 17437620 2007 Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).

rs28940291 in MFN2 gene and Hereditary motor and sensory neuropathy with optic atrophy (disorder) PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

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

PMID 26085578 2015 Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

PMID 16437557 2006 Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.