Nuclear envelope proteins and neuromuscular diseases

• Published in: Muscle & nerve Vol. 27; no. 4; pp. 393 - 406
• Main Authors: Östlund, Cecilia, Worman, Howard J.
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 01.04.2003; Wiley
• Subjects: Animals; Biological and medical sciences; cardiomyopathy; Charcot-Marie-Tooth disease; Cytoskeleton - genetics; Cytoskeleton - metabolism; Cytoskeleton - pathology; Diseases of striated muscles. Neuromuscular diseases; emerin; Emery-Dreifuss muscular dystrophy; Humans; lamin; Lamin Type A - genetics; Lamin Type A - metabolism; limb-girdle muscular dystrophy; lipodystrophy; Medical sciences; Membrane Proteins - genetics; Membrane Proteins - metabolism; Muscle, Skeletal - metabolism; Muscle, Skeletal - pathology; muscular dystrophy; Mutation - genetics; Neurology; Neuromuscular Diseases - genetics; Neuromuscular Diseases - metabolism; Neuromuscular Diseases - pathology; Nuclear Envelope - genetics; Nuclear Envelope - metabolism; Nuclear Proteins; Thymopoietins - genetics; Thymopoietins - metabolism; Cell culture; Animal model; Emery-Dreifuss muscular dystrophy; Cardiovascular disease; Review; Myocardial disease; Nuclear envelope; limb-girdle muscular dystrophy; muscular dystrophy; Emery Dreifuss muscular dystrophy; Gene; Heart disease; Charcot-Marie-Tooth disease; Degenerative disease; Coat protein; cardiomyopathy; Nervous system diseases; Neuromuscular diseases; lamin; Genetic disease; emerin; Congestive hypertrophic cardiomyopathy; Charcot Marie Tooth disease; Central nervous system disease; Limb girdle muscular dystrophy; Lipodystrophy; Adipose tissue disorders; Mutation; Spinal cord disease

Several neuromuscular diseases are caused by mutations in emerin and A‐type lamins, proteins of the nuclear envelope. Emery–Dreifuss muscular dystrophy is caused by mutations in emerin (X‐linked) or A‐type lamins (autosomal dominant). Mutations in A‐type lamins also cause limb‐girdle muscular dystro...