Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

McLaughlin, Heather M

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. [electronic resource] - BMC medical genetics Jul 2013 - 68 p. digital

Publication Type: Case Reports; Journal Article

1471-2350

10.1186/1471-2350-14-68 doi


Adult
Base Sequence
Cardiomyopathies--genetics
Cardiomyopathy, Dilated--genetics
Desmin--genetics
Family
Female
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Genotype
Heterozygote
Humans
Male
Muscular Dystrophies--genetics
Mutation
Pedigree
Sequence Alignment
Sequence Analysis, DNA