title: The mildest known case of Fukuyama-type congenital muscular dystrophy.
abstract: We present a 14-year-old boy with Fukuyama-type congenital muscular dystrophy (FCMD) who shows the mildest muscle weakness ever reported with this affliction and exceptionally mild mental retardation, but who has intractable epilepsy. Magnetic resonance imaging showed the typical abnormalities of FCMD. Molecular genetic analyses revealed a 3 kb insertion mutation in the fukutin gene heterozygously. We could find no mutation in the coding region of the fukutin gene in the chromosome without a 3 kb insertion. The most probable mechanism of clinical manifestation in this patient could be either a mutation in the noncoding regions of the fukutin gene on the chromosome without the ancestral founder haplotype of FCMD, or an error in the process of transcription or translation. Another possibility is the abnormalities in other genes involved in the glycosylation of alpha-dystroglycan, such as Fukutin-related protein and LARGE genes.
authors.affiliation: Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan. takiyama@md.okayama-u.ac.jp
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Akiyama
authors.forename: Yoko
authors.initials: Y
authors.lastname: Ohtsuka
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Takata
authors.forename: Junri
authors.initials: J
authors.lastname: Hattori
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kawakita
authors.forename: Kayoko
authors.initials: K
authors.lastname: Saito
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis / Q000379:methods; D004569:Electroencephalography / Q000379:methods; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D001523:Mental Disorders / Q000209:etiology; D018908:Muscle Weakness / Q000209:etiology; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics / Q000503:physiopathology; D009154:Mutation
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins