Mutations in GJB6 cause hidrotic ectodermal dysplasia
Copyright policy )Mutations in GJB6 cause hidrotic ectodermal dysplasia
Landouzy-Dejerine muscular dystrophy is a rare hereditary disease with prevalence of 0.9 to 1.4 in 100,000. Clinically the disease is characterized by weakness and atrophy of the facial and shoulder girdle muscles. It is caused by partial deletion of the 3.3-kb subtelomeric D4Z4 repeat on chromosome 4 (locus 4q35). This paper presents a critical review of the literature data and hypotheses explaining molecular mechanisms of progressive fascioscapulohumeral muscular dystrophy.
- University of Geneva Switzerland
- University of Lyon System France
- University of Montpellier France
- McGill University Canada
- Assistance Publique -Hopitaux De Paris France
Male, Molecular Sequence Data, Glycine, Mutation, Missense, Arginine, Connexins, Mice, Ectodermal Dysplasia, 616, Connexin 30, Animals, Humans, Amino Acid Sequence, Ectodermal Dysplasia/ genetics, Connexins/ genetics, Chromosomes, Human, Pair 13, Sequence Homology, Amino Acid, Chromosome Mapping, Pedigree, [SDV] Life Sciences [q-bio], Amino Acid Substitution, Female, Sequence Alignment, ddc: ddc:616
Male, Molecular Sequence Data, Glycine, Mutation, Missense, Arginine, Connexins, Mice, Ectodermal Dysplasia, 616, Connexin 30, Animals, Humans, Amino Acid Sequence, Ectodermal Dysplasia/ genetics, Connexins/ genetics, Chromosomes, Human, Pair 13, Sequence Homology, Amino Acid, Chromosome Mapping, Pedigree, [SDV] Life Sciences [q-bio], Amino Acid Substitution, Female, Sequence Alignment, ddc: ddc:616
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