LIMB-GIRDLE MYOPATHY ASSOCIATED WITH MITOCHONDRIAL-DNA DUPLICATION - CLINICAL, BIOCHEMICAL, MORPHOLOGICAL AND MOLECULAR-GENETIC FEATURES

被引:0
|
作者
MANFREDI, G
HIRANO, M
SCHON, EA
DIMAURO, S
BONILLA, E
机构
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:A445 / A445
页数:1
相关论文
共 38 条
  • [21] The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
    Darin, N
    Oldfors, A
    Moslemi, AR
    Holme, E
    Tulinius, M
    ANNALS OF NEUROLOGY, 2001, 49 (03) : 377 - 383
  • [22] Mitochondrial disorders of the nervous system: Clinical, biochemical, and molecular genetic features
    Thyagarajan, D
    Byrne, E
    MITOCHONDRIAL FUNCTION AND DYSFUNCTION, 2002, 53 : 93 - 144
  • [23] DELETIONS OF MITOCHONDRIAL-DNA IN KEARNS-SAYRE SYNDROME AND OCULAR MYOPATHIES - GENETIC, BIOCHEMICAL AND MORPHOLOGICAL-STUDIES
    DEGOUL, F
    NELSON, I
    LESTIENNE, P
    FRANCOIS, D
    ROMERO, N
    DUBOC, D
    EYMARD, B
    FARDEAU, M
    PONSOT, G
    PATURNEAUJOUAS, M
    CHAUSSAIN, M
    LEROUX, JP
    MARSAC, C
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1991, 101 (02) : 168 - 177
  • [24] Clinical and genetic features of a novel autosomal dominant limb-girdle muscular dystrophy 1F (LGMD 1F)
    Palenzuela, L
    Andreu, AL
    Kattah, A
    Gamez, J
    Fernandez-Cadenas, I
    Hirano, M
    NEUROLOGY, 2004, 62 (07) : A412 - A412
  • [25] Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease
    Bruni, Francesco
    Di Meo, Ivano
    Bellacchio, Emanuele
    Webb, Bryn D.
    McFarland, Robert
    Chrzanowska-Lightowlers, Zofia M. A.
    He, Langping
    Skorupa, Ewa
    Moroni, Isabella
    Ardissone, Anna
    Walczak, Anna
    Tyynismaa, Henna
    Isohanni, Pirjo
    Mandel, Hanna
    Prokisch, Holger
    Haack, Tobias
    Bonnen, Penelope E.
    Enrico, Bertini
    Pronicka, Ewa
    Ghezzi, Daniele
    Taylor, Robert W.
    Diodato, Daria
    HUMAN MUTATION, 2018, 39 (04) : 563 - 578
  • [26] The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
    Ng, Yi Shiau
    Alston, Charlotte L.
    Diodato, Daria
    Morris, Andrew A.
    Ulrick, Nicole
    Kmoch, Stanislav
    Houstek, Josef
    Martinelli, Diego
    Haghighi, Alireza
    Atiq, Mehnaz
    Gamero, Montserrat Anton
    Garcia-Martinez, Elena
    Kratochvilova, Hana
    Santra, Saikat
    Brown, Ruth M.
    Brown, Garry K.
    Ragge, Nicola
    Monavari, Ahmad
    Pysden, Karen
    Ravn, Kirstine
    Casey, Jillian P.
    Khan, Arif
    Chakrapani, Anupam
    Vassallo, Grace
    Simons, Cas
    McKeever, Karl
    O'Sullivan, Siobhan
    Childs, Anne-Marie
    Ostergaard, Elsebet
    Vanderver, Adeline
    Goldstein, Amy
    Vogt, Julie
    Taylor, Robert W.
    McFarland, Robert
    JOURNAL OF MEDICAL GENETICS, 2016, 53 (11) : 768 - 775
  • [27] Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency
    Labarthe, F
    Dobbelaere, D
    Devisme, L
    De Muret, A
    Jardel, C
    Taanman, JW
    Gottrand, F
    Lombès, A
    JOURNAL OF HEPATOLOGY, 2005, 43 (02) : 333 - 341
  • [28] CLINICAL, BIOCHEMICAL AND MORPHOLOGICAL FEATURES OF HEPATOCEREBRAL SYNDROME WITH MITOCHONDRIAL DNA DEPLETION DUE TO DEOXYGUANOSINE KINASE DEFICIENCY
    Labarthe, F.
    Dobbelaere, D.
    Devisme, L.
    De Muret, A.
    Jardel, C.
    Taanman, J-W
    Gottrand, F.
    Lonmbes, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 128 - 128
  • [29] MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS) - A CORRELATIVE STUDY OF THE CLINICAL-FEATURES AND MITOCHONDRIAL-DNA MUTATION
    GOTO, Y
    HORAI, S
    MATSUOKA, T
    KOGA, Y
    NIHEI, K
    KOBAYASHI, M
    NONAKA, I
    NEUROLOGY, 1992, 42 (03) : 545 - 550
  • [30] Limb-girdle muscular dystrophies (LGMD) C, D and E: long term clinical follow up, anatomopathological and molecular genetic study of in a cohort of 35 pediatric patients
    Ortez, C.
    Martinez, A.
    Carrera, L.
    Natera, D.
    Exposito, J.
    Colomer, J.
    Jou, C.
    Codina, A.
    Jimenez-Mallebrera, C.
    Gallano, P.
    Gonzalez, L.
    Yubero, D.
    Nascimento, A.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S100 - S100