title: [Congenital and other myopathies].
abstract: The myopathies presented here fall into two groups: Congenital myopathies and protein aggregate myopathies. These genetic conditions often require all modern diagnostic investigations, including histology, enzyme histochemistry, immunohistochemistry and electron microscopy to pave the way to an adequate individual molecular analysis and diagnosis. This is necessary to provide the patient and his or her family information about disease-characteristics or even disease-specific features. Distal myopathies, although caused by mutations in different genes, and toxic myopathies as acquired neuromuscular conditions largely provide non-specific morphological features a correct nosological interpretation of which only succeeds with additional non-morphological data.
authors.affiliation: Abteilung für Neuropathologie, Universitätsmedizin - Johannes-Gutenberg-Universität, Mainz, Deutschland. goebel@neuropatho.klinik.uni-mainz.de
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
authors.forename: H D
authors.initials: HD
authors.lastname: Müller
authors.forename: R
authors.initials: R
authors.lastname: Schröder
mesh_terms: D001706:Biopsy; D002648:Child; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D056426:Genetic Loci / Q000235:genetics; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000473:pathology; D008854:Microscopy, Electron; D009124:Muscle Proteins / Q000235:genetics; D018908:Muscle Weakness / Q000145:classification / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009133:Muscular Atrophy / Q000145:classification / Q000235:genetics / Q000473:pathology; D009135:Muscular Diseases / Q000145:classification / Q000235:genetics* / Q000473:pathology*; D009210:Myofibrils / Q000473:pathology; D010641:Phenotype
chemical_list: D009124:Muscle Proteins