MFN2 deletion of exons 7 and 8: founder mutation in the UK population-Reference-Cited by-同舟云学术

MFN2 deletion of exons 7 and 8: founder mutation in the UK population

Published:2015-06 Issue:2 Volume:20 Page:67-71
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Carr Aisling S.¹,Polke James M.²,Wilson Jacob²,Pelayo-Negro Ana L.¹³,Laura Matilde¹,Nanji Tina²,Holt James⁴,Vaughan Jennifer⁵,Rankin Julia⁶,Sweeney Mary G.²,Blake Julian¹⁷,Houlden Henry²,Reilly Mary M.¹

Affiliation:

1. MRC Centre for Neuromuscular diseases; National Hospital for Neurology and Neurosurgery; London UK

2. Neurogenetics Unit; National Hospital for Neurology and Neurosurgery; London UK

3. Service of Neurology; University Hospital “Marqués de Valdecilla (IDIVAL)”, UC and CIBERNED; Santander Spain

4. Department of Neurology; The Walton Centre; Liverpool UK

5. Department of Neurology; Charing Cross Hospital; London UK

6. Department of Clinical Genetics; Royal Devon and Exeter Hospital; Exeter UK

7. Department of Clinical Neurophysiology; Norfolk and Norwich University Hospital; Norwich UK

Funder

Medical Research Council

NINDS/ORD

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12117/fullpdf

Reference8 articles.

1. MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families;Braathen;BMC Med Genet,2010

2. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusion 2 mutations;Calvo;Arch Neurol,2009

3. A high-resolution recombination map of the human genome;Kong;Nat Gene,2002

4. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing;Murphy;J Neurol Neurosurg Psychiatry,2012

5. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance;Nagy;Trends Biochem Sci,1998

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease;Brain;2024-03-14

2. An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review;Gene;2023-10

3. A mouse model of human mitofusin-2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion;eLife;2023-02-01

4. A mouse model of human mitofusin 2-related lipodystrophy exhibits adipose-specific mitochondrial stress and reduced leptin secretion;2022-09-22

5. Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches;Genes;2021-02-10