title: Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.
abstract: Recessive mutations in TK2 cause a severe mitochondrial DNA depletion syndrome (MDS),(1) characterized by severe myopathy from early infancy. Recent reports have suggested a wider clinical spectrum including encephalomyopathic form.(1,2) We report a patient with infantile-onset fatal encephalomyopathy presenting with extreme muscle fiber immaturity.
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Thanes
authors.initials: T
authors.lastname: Termglinchan
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Seito
authors.initials: S
authors.lastname: Hisamatsu
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Ohmori
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Suzumura
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Sumitomo
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: George
authors.initials: G
authors.lastname: Imataka
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Osamu
authors.initials: O
authors.lastname: Arisaka
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Murakami
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Narihiro
authors.initials: N
authors.lastname: Minami
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Ishiyama
authors.initials: I
authors.lastname: Akihiko
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Goto
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Noguchi
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Satomi
authors.initials: S
authors.lastname: Mitsuhashi
authors.affiliation: Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino