OMIM: 613319Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ANO5 |
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| Dna Change: | c.191dupA |
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| Protein Change: | p.Asn64Lysfs |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 5 |
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| Transcript: | NM_213599.2 |
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References
Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B, Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.Rev. Neurol. (Paris). 2012; 168(2):135-41