Missense mutations ofmitofusin 2in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?

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Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.A cohort study ofMFN2mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients

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Missense mutations ofmitofusin 2in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2013

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Missense mutations ofmitofusin ...... hic or incomplete penetration?

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Missense mutations ofmitofusin ...... hic or incomplete penetration?

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Missense mutations ofmitofusin ...... hic or incomplete penetration?

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Missense mutations ofmitofusin ...... hic or incomplete penetration?

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Missense mutations ofmitofusin ...... hic or incomplete penetration?

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Missense mutations ofmitofusin ...... hic or incomplete penetration?

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P1476

Missense mutations ofmitofusin ...... hic or incomplete penetration?

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P2093

Byung-Ok Choi

http://www.w3.org/2001/XMLSchema#string

Jin-Mo Park

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Khriezhanuo Nakhro

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Ki Wha Chung

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P2860

MEGA5: Molecular Evolutionary Genetics Analysis Using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods

Mitochondrial fragmentation in neurodegeneration

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.

Incomplete penetrance and variable expressivity of a growth defect as a consequence of knocking out two K(+) transporters in the euascomycete fungus Podospora anserina.

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

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228-236

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scholarly article

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10.1080/19768354.2013.814587

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P478

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2013-08-01T00:00:00Z

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Missense mutations ofmitofusin 2in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?

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P2860

P2860

Missense mutations ofmitofusin 2in axonal Charcot–Marie–Tooth neuropathy: polymorphic or incomplete penetration?

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P356

P1433

P1476

P2093

P2860

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P31

P356

P433

P478

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