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Comment
. 2016 Apr;139(Pt 4):e26.
doi: 10.1093/brain/awv411. Epub 2016 Feb 11.

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene

Petra Laššuthová  1 , Dana Šafka Brožková  2 , Marcela Krůtová  2 , Radim Mazanec  3 , Stephan Züchner  4 , Michael A Gonzalez  4 , Pavel Seeman  2
Affiliations
Comment

Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene

Petra Laššuthová et al. Brain. 2016 Apr.
No abstract available

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Figures

Figure 1
Figure 1
Patient at the age of 30 .
See this image and copyright information in PMC

Comment on

  • Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
    Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C. Sevilla T, et al. Brain. 2016 Jan;139(Pt 1):62-72. doi: 10.1093/brain/awv311. Epub 2015 Oct 24. Brain. 2016. PMID: 26497905

References

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    1. MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, et al. . Guidelines for investigating causality of sequence variants in human disease . Nature 2014. ; 508 : 469 – 76 . - PMC - PubMed
    1. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology . Genet Med 2015. ; 17 : 405 – 24 . - PMC - PubMed
    1. Sevilla T, Lupo V, Martinez-Rubio D, Sancho P, Sivera R, Chumillas MJ, et al. . Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease . Brain 2016. ; 139 : 62 – 72 . - PubMed

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