Phenotype: Neuropathy, hereditary motor and sensory, Russe type


OMIM: 605285
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

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HK1 || g.9712G>C

Gene/Locus:    HK1
Dna Change:    g.9712G>C
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:   
Location:   
Transcript:    NM_033498

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainGypsyNA8 patients/ 11 patients from 7 families250 years agoSevilla T et al., 2013Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C, . Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.. Clin. Genet.. 2013; 83(6):565-70

References

Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C, Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.Clin. Genet.. 2013; 83(6):565-70