title: Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion.
abstract: A boy developed contractures of the Achilles tendons at 3 years and of the postcervical muscles at 7 years, although neither contractures of the elbows nor cardiac abnormality were recognized by the age of 9 years. Muscle computed tomography scanning revealed changes characteristic of muscle involvement. Emerin was not detected in the biopsied muscle, and RT-PCR and PCR-based genomic DNA analyses of the emerin gene demonstrated no amplification product in the patient. These results confirmed the diagnosis of X-linked Emery-Dreifuss muscular dystrophy (EDMD), and reinforce the necessity of molecular genetic diagnosis of the membrane protein emerin in younger patients with possible EDMD before appearance of the typical symptoms, to avoid sudden cardiac death.
authors.affiliation: Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Fujimoto
authors.forename: T
authors.initials: T
authors.lastname: Ishikawa
authors.forename: M
authors.initials: M
authors.lastname: Saito
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
authors.forename: I
authors.initials: I
authors.lastname: Wada
authors.forename: K
authors.initials: K
authors.lastname: Arahata
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics*; D009687:Nuclear Proteins; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013946:Thymopoietins / Q000235:genetics*; D014960:X Chromosome
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin