Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

doi:10.1007/BF00201577

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Article

Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

Human genetics - 1 Jun 1994

Meyer-Kleine C, Otto M, Zoll B, Koch M C

Abstract excerpt

Eighteen German families with a history of paramyotonia congenita (PC) were characterised by genetic and mutational analysis at the SCN4A locus, which encodes the alpha-subunit of the adult skeletal muscle sodium channel. We concentrated our analysis primarily on these families to test the hypoth...

Topics

Base Sequence
DNA
Germany
Humans
Molecular Sequence Data
Mutation
Myotonia Congenita
Pedigree
Phenotype
Prevalence
Repetitive Sequences, Nucleic Acid

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