Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype | Zendy

Francesca Lombardi | Zendy; F Gullotta | Zendy; Marta Columbaro | Zendy; Antonio Filareto | Zendy; Monica D’Adamo | Zendy; Anne Vielle | Zendy; Valeria Guglielmi | Zendy; Anna Maria Nardone | Zendy; Valeria Azzolini | Zendy; Enrico Grosso | Zendy; Giovanna Lattanzi | Zendy; Maria Rosaria D’Apice | Zendy; Salvatore Masala | Zendy; Nadir Mario Maraldi | Zendy; Paolo Sbraccia | Zendy; Giuseppe Novelli | Zendy

Open Access

Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

Author(s) -

Francesca Lombardi,

F Gullotta,

Marta Columbaro,

Antonio Filareto,

Monica D’Adamo,

Anne Vielle,

Valeria Guglielmi,

Anna Maria Nardone,

Valeria Azzolini,

Enrico Grosso,

Giovanna Lattanzi,

Maria Rosaria D’Apice,

Salvatore Masala,

Nadir Mario Maraldi,

Paolo Sbraccia,

Giuseppe Novelli

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-0116

Subject(s) - lmna , biology , lamin , heterochromatin , genetics , compound heterozygosity , phenotype , chromatin , gene

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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