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Article

Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.

Journal of applied genetics - 1 Nov 2013

Gabrikova Dana, Mistrik Martin, Bernasovska Jarmila, Bozikova Alexandra, Behulova Regina, Tothova Iveta, Macekova Sona

Abstract excerpt

Autosomal recessive forms of Charcot-Marie-Tooth disease (CMT) account for less than 10 % of all CMT cases, but are more frequent in the populations with a high rate of consanguinity. Roma (Gypsies) are a transnational minority with an estimated population of 10 to 14 million, in which a high degree of consanguineous marriages is a generally known fact. Similar to the other genetically isolated founder...

Topics

Cell Cycle Proteins
Charcot-Marie-Tooth Disease
Consanguinity
Female
Founder Effect
Genes, Recessive
Genetic Testing
Hereditary Sensory and Motor Neuropathy
Heterozygote
Hexokinase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Homozygote

Humans

Intracellular Signaling Peptides and Proteins

Male

Mutation

Pedigree

Refsum Disease

Roma

Source

Identifiers

PMID: 23996628
DOI: 10.1007/s13353-013-0168-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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