OMIM: 616231Inheritance: Autosomal dominant
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CASQ1 |
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| Dna Change: | c.731A>G |
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| Protein Change: | p.Asp244Gly |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 6 |
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| Transcript: | NM_001231.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 10 patients/3 families | NA | Di Blasi C et al., 2015Di Blasi C, Sansanelli S, Ruggieri A, Moriggi M, Vasso M, D'Adamo AP, Blasevich F, Zanotti S, Paolini C, Protasi F, Tezzon F, Gelfi C, Morandi L, Pessia M, Mora M, . A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.. J. Med. Genet.. 2015; 0(0): |
References
Di Blasi C, Sansanelli S, Ruggieri A, Moriggi M, Vasso M, D'Adamo AP, Blasevich F, Zanotti S, Paolini C, Protasi F, Tezzon F, Gelfi C, Morandi L, Pessia M, Mora M, A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.J. Med. Genet.. 2015; 0(0):