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


OMIM: 604286
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

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SGCB || 376_383dup

Gene/Locus:    SGCB
Dna Change:    376_383dup
Protein Change:   
Mutation Type:    Duplication
Mutation Effect:    Frameshift
Location:   
Transcript:    NM_000232.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANorthern Italy3 families/5 familiesNAFanin M et al., 2000Fanin M, Hoffman EP, Angelini C, Pegoraro E, . Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy.. Hum. Mutat.. 2000; 16(1):13-7

References

Fanin M, Hoffman EP, Angelini C, Pegoraro E, Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy.Hum. Mutat.. 2000; 16(1):13-7