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Article

A Homozygous Mutation in the Lamin A/C Gene Associated with a Novel Syndrome of Arthropathy, Tendinous Calcinosis, and Progeroid Features

1 Feb 2006

Abstract excerpt

CONTEXT: Mutations in the lamin A/C (LMNA) gene have been reported in a wide variety of disorders, including lipodystrophies, cardiomyopathy, muscular dystrophies, neuropathy, mandibuloacral dysplasia, restrictive dermopathy, and progeria. OBJECTIVE: The objective of this study was to carry out mutational analysis of LMNA in a patient with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid...

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PMID: 16278265
DOI: 10.1210/jc.2005-1297

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A Homozygous Mutation in the Lamin A/C Gene Associated with a Novel Syndrome of Arthropathy, Tendinous Calcinosis, and Progeroid FeaturesPMID 16278265Read ↗

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