Article
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
European journal of human genetics : EJHG - 1 Jun 2011
Ben Yaou Rabah, Navarro Claire, Quijano-Roy Susana, Bertrand Anne T, Massart Catherine, De Sandre-Giovannoli Annachiara, Cadiñanos Juan, Mamchaoui Kamel, Butler-Browne Gillian, Estournet Brigitte, Richard Pascale, Barois Annie, Lévy Nicolas, Bonne Gisèle
Abstract excerpt
Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as the lethal neonatal restrictive dermopathy syndrome. Phenotype severity is correlated with the residual enzyme activity of ZMPSTE24 and accumulation of prelamin A. We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the...
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