Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy

European Neurology

Volumn 51, Issue 3, 2004, Pages 144-147

  Gambelli, S ^a   Malandrini, A ^a   Ginanneschi, F ^a   Berti, G ^a   Cardaioli, E ^a   De Stefano, R ^a   Franci, M ^a   Salvadori, C ^a   Mari, F ^a   Bruttini, M ^a   Rossi, A ^a   Federico, A ^a   Renieri, A ^a  

^a UNIVERSITY OF SIENA   (Italy)

Author keywords

Intranuclear inclusions; Mitochondrial abnormality; Muscle biopsy; Oculopharyngeal muscular dystrophy

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ADULT; AGED; ANALYTIC METHOD; ANAMNESIS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; DYSPHAGIA; FAMILY; FEMALE; GENE; GENE DELETION; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; LOWER ESOPHAGUS SPHINCTER; MALE; MOLECULE; MUSCLE BIOPSY; MUSCLE CELL; NEUROLOGIC EXAMINATION; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; POLY(A) BINDING PROTEIN 2 GENE; PRIORITY JOURNAL;

ADULT; AGED; BIOPSY; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; HUMANS; INCLUSION BODIES; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MOLECULAR BIOLOGY; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; NEUROLOGIC EXAMINATION; PEDIGREE; POLY(A)-BINDING PROTEIN II; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 2342562966     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000077070     Document Type: Article

References (13)

1. Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA, Korczyn AD: Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998;18:164-167.
2. Müller T, Schröder R, Zierz S: GCG repeats and phenotype in oculopharyngeal muscular dystrophy. Muscle Nerve 2001;24:120-122.
3. Schröder JM, Krabbe B, Weis J: Oculopharyngeal muscular dystrophy: Clinical and morphological follow-up study reveals mitochondrial alterations and unique nuclear inclusions in a severe autosomal recessive type. Neuropathol Appl Neurobiol 1995;21:68-73.
4. Wong KT, Dick D, Anderson JR: Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Neuromusc Disord 1996;6:163-166.
5. Pauzner R, Blatt I, Mouallem M, Ben-David E, Farfel Z, Sadeh M: Mitochondrial abnormalities in oculopharyngeal muscular dystrophy. Muscle Nerve 1991;14:947-952.
6. Oldfors A, Moslemi AR, Fyhr IM, Holme E, Larsson NG, Lindberg C: Mitochondrial DNA deletions in muslce fibers in inclusion body myositis. J Neuropathol Exp Neurol 1995;54:581-587.
7. Jansson M, Darin N, Kyllerman M, Martinsson T, Wahlström J, Oldfors A: Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy. Acta Neuropathol 2000;100:23-28.
8. Horvath R, Fu K, Johns T, Genge A, Karpati G, Shoubridge EA: Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis. J Neuropathol Exp Neurol 1998;57:396-403.
9. Levine TD, Pestronk A: Inflammatory myopathy with cytochrome oxidase negative muscle fibers: Methotrexate treatment. Muscle Nerve 1998;21:1724-1728.
10. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA Thorburn DR: Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002;59:1406-1411.
11. Andersson U, Antonicka H, Houstek J, Cannon B: A novel principle for conferring selectivity to poly(A)-binding proteins: Interdependence of two ATP synthase beta-subunit mRNA-binding proteins. Biochem J 2000;346:33-39.
12. Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K: The product of an oculopharyngeal muscular dystrophy gene, poly( A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. Hum Mol Genet 2001;10:1129-1139.
13. Sambrook J, Fritsch EF, Manitias T: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1989.