Gene Symbol: CAPN3
OMIM: 114240Chromosome location: 15q15.1
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | 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 |
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