Variant: rs119103268 

    present in Gene: MFN2
    present in Chromosome: 1
    Position on Chromosome: 11992689
    Alleles of this Variant: C/T

rs119103268 in MFN2 gene and Charcot-Marie-Tooth Disease PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

PMID 18425620 2008 Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 21531138 2011 Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

rs119103268 in MFN2 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

PMID 21531138 2011 Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

PMID 26307494 2015 Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.

PMID 26382835 2015 A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.

PMID 22492563 2012 MFN2 mutations cause compensatory mitochondrial DNA proliferation.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 20008656 2009 Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

PMID 18425620 2008 Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

PMID 18946002 2008 Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.

PMID 18957892 2008 Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.

PMID 21326314 2011 Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.