Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?

doi:10.1007/s004399900093

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Article

Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?

Human genetics - 1 Oct 1999

D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F

Abstract excerpt

Merosin-deficient congenital muscular dystrophy is an autosomal recessive neuromuscular disorder caused by partial or total absence of laminin-2 (merosin) in the skeletal muscle. Affected children have severe weakness, hypotonia at birth, high creatine kinase (CK) levels (more than 10 times normal) and are not able to walk or stand unsupported. Linkage and mutation analysis demonstrated that the gene encoding for...

Topics

Female
Genes, Recessive
Genetic Linkage
Haplotypes
Heterozygote
Humans
Laminin
Male
Microsatellite Repeats
Models, Genetic
Muscular Dystrophies
Mutation
Pregnancy
Selection, Genetic

Source

Open in PubMed

Identifiers

PMID: 10543397
DOI: 10.1007/s004399900093

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