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

Hilde Van Esch | Zendy; Anil K. Agarwal | Zendy; Philippe Debeer | Zendy; JeanPierre Fryns | Zendy; Abhimanyu Garg | Zendy

Open Access

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

Author(s) -

Hilde Van Esch,

Anil K. Agarwal,

Philippe Debeer,

JeanPierre Fryns,

Abhimanyu Garg

Publication year - 2006

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.2005-1297

Subject(s) - lmna , progeria , lamin , medicine , missense mutation , lipodystrophy , genetics , alkaptonuria , pathology , dermatology , mutation , biology , gene , virus , antiretroviral therapy , viral load

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.

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