Condition: Hereditary motor and sensory neuropathy with optic atrophy (disorder)
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.