title: Inherited disorders of sarcomeric proteins.
abstract: The most important advances in sarcomeric protein diseases continue to be the identification of mutated genes responsible for human diseases. These have recently included those that encode skeletal muscle alpha-actin in autosomal dominant and autosomal recessive nemaline myopathy, nebulin and slow alpha-tropomyosin in autosomal recessive nemaline myopathy, and desmin and alpha B-crystallin in desminopathies.
authors.affiliation: Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, University of Western Australia, Nedlands, Australia. nlaing@cyllene.uwa.edu.au
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
mesh_terms: D009202:Cardiomyopathies / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009124:Muscle Proteins / Q000378:metabolism*; D018482:Muscle, Skeletal; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism* / Q000628:therapy; D012518:Sarcomeres / Q000378:metabolism*
chemical_list: D009124:Muscle Proteins