Article
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.
European journal of human genetics : EJHG - 1 Apr 2014
Ylikallio Emil, Johari Mridul, Konovalova Svetlana, Moilanen Jukka S, Kiuru-Enari Sari, Auranen Mari, Pajunen Leila, Tyynismaa Henna
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is a group of hereditary peripheral neuropathies. The dominantly inherited axonal CMT2 displays striking genetic heterogeneity, with 17 presently known disease genes. The large number of candidate genes, combined with lack of genotype-phenotype correlations, has made genetic diagnosis in CMT2 time-consuming and costly. In Finland, 25% of dominant CMT2 is explained by either a...
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