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We began analyzing https://link.springer.com/article/10.1007/s00439-004-1199-2, but it redirected us to https://link.springer.com/article/10.1007/s00439-004-1199-2. The analysis below is for the second page.

Title[redir]:
Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A | Human Genetics
Description:
Charcot–Marie–Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35–p36 and mutation in the kinesin family member 1B-ß (KIF1B) gene had been reported in one pedigree. However, no mutation in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees. MFN2, a mitochondrial transmembrane GTPase, regulates the mitochondrial network architecture by fusion of mitochondria. We studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients. Six of them were novel and one of them was a de novo mutation. Most mutations locate within or immediately upstream of the GTPase domain or within two coiled-coil domains, which are critical for the functioning or mitochondrial targeting of MFN2. Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon.

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Keywords {🔍}

article, mitochondrial, pubmed, google, scholar, cas, charcotmarietooth, type, disease, genet, mutation, japan, gtpase, gene, mitofusin, neuropathy, mutations, mfn, access, hum, department, hayasaka, neurology, privacy, cookies, content, research, cmt, axonal, fusion, motor, evgrafov, van, jonghe, timmerman, publish, search, human, kijima, numakura, chromosome, protein, network, patients, open, cell, dadali, polyakov, maps, yamagata,

Topics {✒️}

axonal charcot–marie–tooth disease charcot–marie-tooth disease month download article/chapter mitochondrial network architecture mfn2 variants linked mitochondrial transmembrane gtpase microtubule motor kif1bbeta gtpase domain related subjects dejerine-sottas disease full article pdf transmembrane gtpase fzo privacy choices/manage cookies mitochondrial network hereditary motor de novo mutation myelin p0 gene neurofilament-light gene hospital medical center teikyo university school human mitofusin-2 human mitofusin european economic area coiled-coil domains lee-lin sq regulatory mechanism altered ubiquitous mammalian homologs check access instant access kiyoshi hayasaka chromosome 1p35–p36 chromosome 7q11–q21 chromosome 12q12–q13 conditions privacy policy yamagata university school national center hospital article kijima pericak-vance ma mitochondrial fusion van den bosch accepting optional cookies axonal forms saiseikai hiroshima hospital author information authors article log main content log mitochondrial targeting mitochondrial metabolism mitochondrial morphology coe research

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         headline:Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A
         description:Charcot–Marie–Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35–p36 and mutation in the kinesin family member 1B-ß (KIF1B) gene had been reported in one pedigree. However, no mutation in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees. MFN2, a mitochondrial transmembrane GTPase, regulates the mitochondrial network architecture by fusion of mitochondria. We studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients. Six of them were novel and one of them was a de novo mutation. Most mutations locate within or immediately upstream of the GTPase domain or within two coiled-coil domains, which are critical for the functioning or mitochondrial targeting of MFN2. Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon.
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      headline:Mitochondrial GTPase mitofusin 2 mutation in Charcot–Marie–Tooth neuropathy type 2A
      description:Charcot–Marie–Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35–p36 and mutation in the kinesin family member 1B-ß (KIF1B) gene had been reported in one pedigree. However, no mutation in KIF1B was detected in other pedigrees with CMT2A and the mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) gene were recently detected in those pedigrees. MFN2, a mitochondrial transmembrane GTPase, regulates the mitochondrial network architecture by fusion of mitochondria. We studied MFN2 in 81 Japanese patients with axonal or unclassified CMT and detected seven mutations in seven unrelated patients. Six of them were novel and one of them was a de novo mutation. Most mutations locate within or immediately upstream of the GTPase domain or within two coiled-coil domains, which are critical for the functioning or mitochondrial targeting of MFN2. Formation of a mitochondrial network would be required to maintain the functional peripheral nerve axon.
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         Gene Function
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