title: [Facioscapulohumeral muscular dystrophy (FSHD)].
abstract: Facioscapulohumeral muscular dystrophy (FSHD; MIM 158900) is one of the major forms of muscular dystrophy, and is inherited in an autosomal dominant fashion. In most patients with FSHD, deletion of 3.3 kb tandemly repeated units within the EcoRI fragment, as detected by p13E-11 (D4F104S1) on chromosome 4q35, is associated with the disease (FSHD1A or 4q35-FSHD). Rare (< 5%) 4q35-unlinked FSHD (FSHD1B) is also known, and therefore genetic heterogeneity exists among FSHD. Recent studies based on the distinction of 4q35 EcoRI fragments from those of 10q26 improved the reliability of molecular diagnosis of the disease (> 95% accuracy). However, gene for FSHD1A has not been identified yet. Identification of the FSHD gene and characterization of the gene product are waited on tiptoe with expectation.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, NCNP.
authors.forename: M
authors.initials: M
authors.lastname: Funakoshi
authors.forename: K
authors.initials: K
authors.lastname: Goto
authors.forename: B Y
authors.initials: BY
authors.lastname: Kim
authors.forename: K
authors.initials: K
authors.lastname: Arahata
mesh_terms: D002894:Chromosomes, Human, Pair 4; D015246:Deoxyribonuclease EcoRI / Q000235:genetics; D017353:Gene Deletion; D005799:Genes, Dominant; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics
chemical_list: D015246:Deoxyribonuclease EcoRI