Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

(2010) Robert Smigiel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24

(2010) Vicki J. Cunningham et al.   BONE

Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption

(2009) Chumei Li   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in theZMPSTE24gene

(2009) Ming Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings

(2009) Y Miyoshi et al.   CLINICAL GENETICS

Association of homozygousLMNAmutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

(2008) Birgit Zirn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Restrictive dermopathy: a rare laminopathy

(2008) Marc Thill et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

A newly identified splice site mutation inZMPSTE24causes restrictive dermopathy in the Middle East

(2008) C.S. Sander et al.   BRITISH JOURNAL OF DERMATOLOGY

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

(2008) Agnieszka Madej-Pilarczyk et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Restrictive dermopathy—a lethal congenital laminopathy. Case report and review of the literature

(2008) Paulo Morais et al.   EUROPEAN JOURNAL OF PEDIATRICS

Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527CysLMNAMutation

(2008) Anil K. Agarwal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging

(2008) Ignacio Varela et al.   NATURE MEDICINE