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Volumn 65, Issue 4, 1999, Pages 1104-1113

A novel syndrome of episodic muscle weakness maps to Xp22.3

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME XP; CLINICAL ARTICLE; EATON LAMBERT SYNDROME; EXTRAOCULAR MUSCLE; FACE MUSCLE; FAMILY; FATIGUE; FEVER; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; MUSCLE STRENGTH; MUSCLE WEAKNESS; PERIODIC PARALYSIS; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SKELETAL MUSCLE; X CHROMOSOMAL INHERITANCE;

EID: 0033361940     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302588     Document Type: Article
Times cited : (10)

References (28)
  • 1
    • 0030027095 scopus 로고    scopus 로고
    • A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
    • Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, Binkofski F, Kugel H, et al (1996) A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 31:90-94
    • (1996) Genomics , vol.31 , pp. 90-94
    • Auburger, G.1    Ratzlaff, T.2    Lunkes, A.3    Nelles, H.W.4    Leube, B.5    Binkofski, F.6    Kugel, H.7
  • 2
    • 0033361795 scopus 로고    scopus 로고
    • X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats
    • Bassi MT, Ramesar RS, Caciotti B, Winship IM, De Grandi A, Riboni M, Townes PL, et al (1999) X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Am J Hum Genet 64:1604-1616
    • (1999) Am J Hum Genet , vol.64 , pp. 1604-1616
    • Bassi, M.T.1    Ramesar, R.S.2    Caciotti, B.3    Winship, I.M.4    De Grandi, A.5    Riboni, M.6    Townes, P.L.7
  • 4
    • 0030806159 scopus 로고    scopus 로고
    • Phenotype variation and newcomers in ion channel disorders
    • Bulmand D (1997) Phenotype variation and newcomers in ion channel disorders. Hum Mol Genet 6:1679-1685
    • (1997) Hum Mol Genet , vol.6 , pp. 1679-1685
    • Bulmand, D.1
  • 5
    • 0031877023 scopus 로고    scopus 로고
    • A very high density microsatellite map (1STR/41kb) of 1.7Mb on Xp22 spanning the microphthalmia with linear skin defects syndrome critical region
    • Cox TC, Cox LL, Ballabio A (1998) A very high density microsatellite map (1STR/41kb) of 1.7Mb on Xp22 spanning the microphthalmia with linear skin defects syndrome critical region. Eur J Hum Genet 6:406-412
    • (1998) Eur J Hum Genet , vol.6 , pp. 406-412
    • Cox, T.C.1    Cox, L.L.2    Ballabio, A.3
  • 6
    • 0029922495 scopus 로고    scopus 로고
    • Periodic vestibulo-cerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias
    • Damji KF, Allingham RR, Pollock SC, Small K, Lewis KE, Stajich JM, Yamaoka LH, et al (1996) Periodic vestibulo-cerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol 53:338-344
    • (1996) Arch Neurol , vol.53 , pp. 338-344
    • Damji, K.F.1    Allingham, R.R.2    Pollock, S.C.3    Small, K.4    Lewis, K.E.5    Stajich, J.M.6    Yamaoka, L.H.7
  • 7
    • 0001509765 scopus 로고
    • Myasthenic syndromes
    • Engel AG, Franzini-Armstrong C (eds), McGraw Hill, New York
    • Engel AG (1994) Myasthenic syndromes. In: Engel AG, Franzini-Armstrong C (eds) Myology, 2d ed. McGraw Hill, New York, pp 1798-1835
    • (1994) Myology, 2d Ed. , pp. 1798-1835
    • Engel, A.G.1
  • 11
    • 0030799454 scopus 로고    scopus 로고
    • Calcium channels in neurological disease
    • Greenberg DA (1997) Calcium channels in neurological disease. Ann Neurol 42:275-282
    • (1997) Ann Neurol , vol.42 , pp. 275-282
    • Greenberg, D.A.1
  • 12
    • 0028970139 scopus 로고
    • The skeletal muscle sodium and chloride channel diseases
    • Hudson AJ, Ebers GC, Bulman DE (1995) The skeletal muscle sodium and chloride channel diseases. Brain 118:547-563
    • (1995) Brain , vol.118 , pp. 547-563
    • Hudson, A.J.1    Ebers, G.C.2    Bulman, D.E.3
  • 13
    • 0015895066 scopus 로고
    • Sarcotubular myopathy: A newly recognized, benign, congenital, familial muscle disease
    • Jerusalem F, Engel AG, Gomez MR (1973) Sarcotubular myopathy: a newly recognized, benign, congenital, familial muscle disease. Neurology 23:897-906
    • (1973) Neurology , vol.23 , pp. 897-906
    • Jerusalem, F.1    Engel, A.G.2    Gomez, M.R.3
  • 16
    • 0030758154 scopus 로고    scopus 로고
    • Hereditary thermosensitive neuropathy: An autosomal dominant disorder of the peripheral nervous system
    • Magy L, Birouk N, Vallat JM, Gouider R, Maisonobe T, Bouche P, Lyon-Caen O, et al (1997) Hereditary thermosensitive neuropathy: an autosomal dominant disorder of the peripheral nervous system. Neurology 48:1684-1690
    • (1997) Neurology , vol.48 , pp. 1684-1690
    • Magy, L.1    Birouk, N.2    Vallat, J.M.3    Gouider, R.4    Maisonobe, T.5    Bouche, P.6    Lyon-Caen, O.7
  • 19
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 20
    • 0023139468 scopus 로고
    • Synaptic vesicle abnormality in familial infantile myasthenia
    • Mora M, Lambert EH, Engel AC (1987) Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 37:206-214
    • (1987) Neurology , vol.37 , pp. 206-214
    • Mora, M.1    Lambert, E.H.2    Engel, A.C.3
  • 21
    • 0027511236 scopus 로고
    • Genetics and physiology of the myotonic muscle disorders
    • Ptacek LJ, Johnson KJ, Griggs RC (1993) Genetics and physiology of the myotonic muscle disorders. N Engl J Med 328:482-489
    • (1993) N Engl J Med , vol.328 , pp. 482-489
    • Ptacek, L.J.1    Johnson, K.J.2    Griggs, R.C.3
  • 22
    • 0008600240 scopus 로고    scopus 로고
    • Nondystrophic myotonias, periodic paralyses and malignant hyperthermia
    • Emery AH (ed). John Wiley & Sons, New York
    • Rudel R, Lehmann-Horn F (1998) Nondystrophic myotonias, periodic paralyses and malignant hyperthermia. In: Emery AH (ed) Neuromuscular disorders: clinical and molecular genetics. John Wiley & Sons, New York, pp 365-420
    • (1998) Neuromuscular Disorders: Clinical and Molecular Genetics , pp. 365-420
    • Rudel, R.1    Lehmann-Horn, F.2
  • 23
    • 0027491539 scopus 로고
    • Genotype-phenotype correlations in human skeletal muscle sodium channel disorders
    • Rudel R, Ricker K, Lehmann-Horn F (1993) Genotype-phenotype correlations in human skeletal muscle sodium channel disorders. Arch Neurol 50:1241-1248
    • (1993) Arch Neurol , vol.50 , pp. 1241-1248
    • Rudel, R.1    Ricker, K.2    Lehmann-Horn, F.3
  • 24
    • 0028907718 scopus 로고
    • Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region
    • Schiaffino MV, Bassi MT, Rugarli EI, Reneri A, Galli L, Ballabio A (1995) Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet 4:373-382
    • (1995) Hum Mol Genet , vol.4 , pp. 373-382
    • Schiaffino, M.V.1    Bassi, M.T.2    Rugarli, E.I.3    Reneri, A.4    Galli, L.5    Ballabio, A.6
  • 27
    • 0028920029 scopus 로고
    • Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p
    • Von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE (1995) Mapping the gene for acetazolamide responsive hereditary paroxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 4:279-284
    • (1995) Hum Mol Genet , vol.4 , pp. 279-284
    • Von Brederlow, B.1    Hahn, A.F.2    Koopman, W.J.3    Ebers, G.C.4    Bulman, D.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.