Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A


rs119103267 in MFN2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A PMID 30158064 2019 MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue.

PMID 28414270 2017 Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.

PMID 26114802 2015 MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

PMID 22492563 2012 MFN2 mutations cause compensatory mitochondrial DNA proliferation.

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

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

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

PMID 29358271 2018 Catalogue of inherited disorders found among the Irish Traveller population.

PMID 24126688 2013 Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

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

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

PMID 28251916 2017 Genetic heterogeneity of motor neuropathies.

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

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

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

PMID 22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

PMID 26378787 2016 The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

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

PMID 24053775 2013 Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.