Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype
Academic Article
Publication Date:
2007
Short description:
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype / Lombardi, F., Gullotta, F., Columbaro, M., Filareto, A., D'Adamo, M., Vielle, A., Guglielmi, V., Nardone, A.m., Azzolini, V., Grosso, E., Lattanzi, G., D'Apice, M.R., Masala, S., Maraldi, N.m., Sbraccia, P., Novelli, G.. - In: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM. - ISSN 0021-972X. - 92:11(2007), pp. 4467-4471. [10.1210/jc.2007-0116]
abstract:
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.
Iris type:
1.1 Articolo in rivista
Keywords:
Fluorescent Antibody Technique; Alleles; Cells; Cultured; Craniofacial Abnormalities; Transfection; Mutation; Female; Phenotype; Heterozygote; Blotting; Western; Fibroblasts; Humans; Microscopy; Electron; Bone Diseases; Developmental; Mutagenesis; Adult; DNA Mutational Analysis; Lipodystrophy; DNA; Complementary; Lamin Type A
List of contributors:
Lombardi, F; Gullotta, F; Columbaro, M; Filareto, A; D'Adamo, Monica; Vielle, A; Guglielmi, V; Nardone, Am; Azzolini, V; Grosso, E; Lattanzi, G; D'Apice, MARIA ROSARIA; Masala, Salvatore; Maraldi, Nm; Sbraccia, Paolo; Novelli, Giuseppe
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