OMIM: 253600Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CAPN3 |
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| Dna Change: | c.550delA |
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| Protein Change: | p.Thr184Argfs*36 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 4 |
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| Transcript: | NM_000070.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Croatia | NA | NA | 76% of chromosomes | NA | Canki-Klain N et al., 2004Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J, . Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.. Am. J. Med. Genet. A. 2004; 125(2):152-6 |
| Croatia | NA | NA | 43/58 (74%) CAPN3 chromosomes | NA | Milic A et al., 2005Milic A, Canki-Klain N, . Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.. Croat. Med. J.. 2005; 46(4):657-63 |
| Italy | NA | Northeastern | 40% of mutant alleles | NA | Fanin M et al., 2005Fanin M, Nascimbeni AC, Fulizio L, Angelini C, . The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.. Neuromuscul. Disord.. 2005; 15(3):218-24 |
| Gene/Locus: | CAPN3 |
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| Dna Change: | c.1469G>A |
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| Protein Change: | p.Arg490Gln |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 11 |
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| Transcript: | NM_000070.2 |
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References
Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J, Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.Am. J. Med. Genet. A. 2004; 125(2):152-6
Fanin M, Nascimbeni AC, Fulizio L, Angelini C, The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.Neuromuscul. Disord.. 2005; 15(3):218-24
Milic A, Canki-Klain N, Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.Croat. Med. J.. 2005; 46(4):657-63