Literature DB >> 14745088

Somatic mosaicism in Charcot-Marie-Tooth type X disease.

A Kochanski1, A Nowakowski, M Kawulak, D Kabzińska, I Hausmanowa-Petrusewicz.   

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Year:  2004        PMID： 14745088     DOI： 10.1212/01.wnl.0000103441.52563.02

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  2 in total

1.  Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.

Authors:  I Borgulová; R Mazanec; I Sakmaryová; M Havlová; D Safka Brožková; P Seeman
Journal:  Neurogenetics       Date:  2013-08-04       Impact factor: 2.660

2.  Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Authors:  Katherine Schon; Olivera Spasic-Boskovic; Kim Brugger; Tracey D Graves; Stephen Abbs; Soo-Mi Park; Gautam Ambegaonkar; Ruth Armstrong
Journal:  Neurogenetics       Date:  2017-01-06       Impact factor: 2.660
  2 in total

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