Article
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
The Journal of clinical endocrinology and metabolism - 1 Nov 2007
Lombardi Francesca, Gullotta Francesca, Columbaro Marta, Filareto Antonio, D'Adamo Monica, Vielle Anne, Guglielmi Valeria, Nardone Anna Maria, Azzolini Valeria, Grosso Enrico, Lattanzi Giovanna, D'Apice Maria Rosaria, Masala Salvatore, Maraldi Nadir Mario, Sbraccia Paolo, Novelli Giuseppe
Abstract excerpt
CONTEXT: Mandibuloacral dysplasia type A (MADA; OMIM 248370) is a rare progeroid syndrome characterized by dysmorphic craniofacial and skeletal features, lipodystrophy, and metabolic complications. Most Italian patients carry the same homozygous missense mutation (p.R527H) in the C-terminal tail domain of the LMNA gene, which encodes lamin A/C, an intermediate filament component of the nuclear envelope....
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