Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. (Q35117082)

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6 February 2020

title

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations (English)

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6 February 2020

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4

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6 February 2020

Giorgia Bergamin

6

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M G Sweeney

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6 February 2020

author name string

J M Polke

1

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6 February 2020

M Laurá

2

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6 February 2020

D Pareyson

3

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6 February 2020

M Milani

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V S Gibbons

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6 February 2020

H Houlden

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S C Chamley

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J Blake

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C Devile

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R Sandford

12

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6 February 2020

M B Davis

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M M Reilly

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language of work or name

English

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publication date

29 June 2011

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6 February 2020

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6 February 2020

volume

77

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6 February 2020

issue

2

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6 February 2020

page(s)

168-173

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

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140074

Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140074

Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140074

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140074

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140074

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140074

Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

27 September 2018

1 reference

12 December 2020

Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood

1 reference

12 December 2020

Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated WithMitofusin 2Mutations

1 reference

12 December 2020

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

1 reference

12 December 2020

10.1212/WNL.0B013E3182242D4D

Identifiers

DOI

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6 February 2020

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6 February 2020

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