Phenotype: Muscular dystrophy, limb-girdle, type 2A


OMIM: 253600
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

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CAPN3 || c.550delA

Gene/Locus:    CAPN3
Dna Change:    c.550delA
Protein Change:    p.Thr184Argfs*36
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 4
Transcript:    NM_000070.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
CroatiaNANA76% of chromosomesNACanki-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
CroatiaNANA43/58 (74%) CAPN3 chromosomesNAMilic A et al., 2005Milic A, Canki-Klain N, . Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.. Croat. Med. J.. 2005; 46(4):657-63
ItalyNANortheastern40% of mutant alleles NAFanin 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

CAPN3 || c.1469G>A

Gene/Locus:    CAPN3
Dna Change:    c.1469G>A
Protein Change:    p.Arg490Gln
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 11
Transcript:    NM_000070.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANortheastern46% of mutant alleles NAFanin 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