OMIM: 605285Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | HK1 |
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| Dna Change: | g.9712G>C |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | |
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| Location: | |
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| Transcript: | NM_033498 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | Gypsy | NA | 8 patients/ 11 patients from 7 families | 250 years ago | Sevilla 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