laminopathy

Introduction

A group of disorders with aberrations in the LMNA gene, including:

• Hutchinson Gilford syndrome (progeria)
• mandibuloacral dysplasia (MAD)
• Emery-Dreifuss muscular dystrophy, autosomal dominant type
• Emery-Dreifuss muscular dystrophy, autosomal recessive type
• Charcot-Marie-Tooth disease, autosomal recessive axonal
• dilated cardiomyopathy, type 1A
• limb girdle muscular dystrophy with AV conduction disturbances
• lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis & cardiomyopathy

The laminopathies largely affect muscle, adipose tissue & bone, tissues derived from mesenchymal cells.