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Volumn 19, Issue 10, 2012, Pages

Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation

Author keywords

Genetics; Mitochondria; Mitochondrial genome; Neuropathy

Indexed keywords

ACHILLES REFLEX; ADULT; AGED; ATP6 GENE; BABINSKI REFLEX; CASE REPORT; CATARACT; CEREBELLUM ATROPHY; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FOOT MALFORMATION; GENE MUTATION; HEART SUPRAVENTRICULAR ARRHYTHMIA; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LETTER; MITOCHONDRIAL GENE; MITOCHONDRIAL GENOME; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PARESTHESIA; PRIORITY JOURNAL; SURAL NERVE; UNSTEADINESS;

EID: 84866303695     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2012.03812.x     Document Type: Letter
Times cited : (18)

References (7)
  • 1
    • 33745922994 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth hereditary neuropathy overview
    • Pagon RA, Bird TC, Dolan CR, Stephens K, eds. Seatlle, WA: University of Washington; 1993-2011: (accessed 09/09/2011).
    • Bird TD. Charcot-Marie-Tooth hereditary neuropathy overview. In: Pagon RA, Bird TC, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seatlle, WA: University of Washington; 1993-2011:http://www.ncbi.nlm.nih.gov/books/NBK1358/ (accessed 09/09/2011).
    • GeneReviews [Internet]
    • Bird, T.D.1
  • 2
    • 78649984334 scopus 로고    scopus 로고
    • Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
    • Verny C, Guegen N, Desquiret V, et al. Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. Mitochondrion 2011; 11: 70-75.
    • (2011) Mitochondrion , vol.11 , pp. 70-75
    • Verny, C.1    Guegen, N.2    Desquiret, V.3
  • 3
    • 0031803720 scopus 로고    scopus 로고
    • Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome
    • Makino M, Horai S, Goto Y, Nonaka I. Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. Neuromuscul Disord 1998; 8: 149-151.
    • (1998) Neuromuscul Disord , vol.8 , pp. 149-151
    • Makino, M.1    Horai, S.2    Goto, Y.3    Nonaka, I.4
  • 4
    • 0031965039 scopus 로고    scopus 로고
    • Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene
    • Dionisi-Vici C, Seneca S, Zeviani M, et al. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J Inherit Metab Dis 1998; 21: 2-8.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 2-8
    • Dionisi-Vici, C.1    Seneca, S.2    Zeviani, M.3
  • 5
    • 33847064731 scopus 로고    scopus 로고
    • A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene
    • Hung PC, Wang HS. A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene. Dev Med Child Neurol 2007; 49: 65-67.
    • (2007) Dev Med Child Neurol , vol.49 , pp. 65-67
    • Hung, P.C.1    Wang, H.S.2
  • 6
    • 80052029019 scopus 로고    scopus 로고
    • Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation
    • Ronchi D, Bordoni A, Cosi A, et al. Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation. Biochem Biophys Res Commun 2011; 412: 245-248.
    • (2011) Biochem Biophys Res Commun , vol.412 , pp. 245-248
    • Ronchi, D.1    Bordoni, A.2    Cosi, A.3
  • 7
    • 0029122341 scopus 로고
    • A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
    • Thyagarajan D, Shanske S, Vazquez-Memije M, De Vivo D, DiMauro S. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol 1995; 38: 468-472.
    • (1995) Ann Neurol , vol.38 , pp. 468-472
    • Thyagarajan, D.1    Shanske, S.2    Vazquez-Memije, M.3    De Vivo, D.4    DiMauro, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.