Article
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
American journal of medical genetics. Part A - 15 Apr 2008
Zirn Birgit, Kress Wolfram, Grimm Tiemo, Berthold Lars Daniel, Neubauer Bernd, Kuchelmeister Klaus, Müller Ulrich, Hahn Andreas
Abstract excerpt
We report on a 7-year-old girl with a phenotype combining mandibuloacral dysplasia (MAD), progeria, and rigid spine muscular dystrophy. Mild proximal weakness, contractures, and rigidity of the spine were the primary findings. Although present since birth, dysmorphic manifestations typical for MAD and progeroid features became more prominent with time, and the full clinical phenotype was recognizable at early...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.