title: A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.
authors.affiliation: Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Tsunoda
authors.affiliation: Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Yamashita
authors.affiliation: Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
authors.forename: Emi
authors.initials: E
authors.lastname: Motokura
authors.affiliation: Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Takahashi
authors.affiliation: Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
authors.forename: Kota
authors.initials: K
authors.lastname: Sato
authors.affiliation: Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
authors.forename: Mami
authors.initials: M
authors.lastname: Takemoto
authors.affiliation: Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
authors.forename: Nozomi
authors.initials: N
authors.lastname: Hishikawa
authors.affiliation: Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Ohta
authors.affiliation: National Center of Neurology and Psychiatry, 4-1-1 Kodaira, Tokyo 187-8502, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Nishikawa
authors.affiliation: National Center of Neurology and Psychiatry, 4-1-1 Kodaira, Tokyo 187-8502, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.affiliation: Department of Neurology, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2-5-1 Shikatacho, Okayama 700-8558, Japan. Electronic address: me18046@s.okayama-u.ac.jp.
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
mesh_terms: D003937:Diagnosis, Differential; D018450:Disease Progression; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000235:genetics; D009154:Mutation; D017696:Myopathies, Nemaline / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: D009124:Muscle Proteins; C035620:nebulin
keywords: Adult-onset nemaline myopathy; Compound heterozygote; Nebulin (NEB)