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Volumn 68, Issue 10, 1997, Pages 839-844

Proximal myotonic myopathy (PROMM) clinical variability within a family;Proximale myotone Myopathie (PROMM). Klinische Variabilitat innerhalb einer Familie

Author keywords

Cataract; Myopathy; Myotonia; Myotonic dystrophy (DM); Proximal myotonic myopathy (PROMM)

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN SCINTISCANNING; CATARACT; CLINICAL ARTICLE; CLINICAL FEATURE; ELECTROMYOGRAM; FEMALE; HUMAN; MALE; MUSCLE WEAKNESS; MYOTONIC DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; SCHOOL CHILD;

EID: 0030668072     PISSN: 00282804     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001150050203     Document Type: Article
Times cited : (13)

References (13)
  • 1
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    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′end of a transcript encoding a protein kinase family member. Cell 68:799-808
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 5
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    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 6
    • 0029945035 scopus 로고    scopus 로고
    • A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): A challenge for future molecular studies
    • Meola G, Sansone V, Radice S, Skradski S, Ptacek L (1996) A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromusc Disord 6:143-150
    • (1996) Neuromusc Disord , vol.6 , pp. 143-150
    • Meola, G.1    Sansone, V.2    Radice, S.3    Skradski, S.4    Ptacek, L.5
  • 7
    • 0029976445 scopus 로고    scopus 로고
    • Proximal myotonic myopathy: Mini-review of a recently delineated clinical disorder
    • Moxley RT (1996) Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder. Neuromusc Disord 6:87-93
    • (1996) Neuromusc Disord , vol.6 , pp. 87-93
    • Moxley, R.T.1
  • 8
    • 0027982349 scopus 로고
    • Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
    • Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT (1994) Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44:1448-1452
    • (1994) Neurology , vol.44 , pp. 1448-1452
    • Ricker, K.1    Koch, M.C.2    Lehmann-Horn, F.3    Pongratz, D.4    Otto, M.5    Heine, R.6    Moxley, R.T.7
  • 10
    • 0029804621 scopus 로고    scopus 로고
    • Heat-sensitive myotonia in proximal myotonic myopathy
    • Sander HW, Tavoulareas GP, Chokroverty S (1996) Heat-sensitive myotonia in proximal myotonic myopathy. Neurology 47:956-962
    • (1996) Neurology , vol.47 , pp. 956-962
    • Sander, H.W.1    Tavoulareas, G.P.2    Chokroverty, S.3
  • 11
    • 0029025584 scopus 로고
    • Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions
    • Stoll G, von Giesen HJ, Koch MC, Arendt G, Benecke R (1995) Proximal myotonic myopathy syndrome in the absence of trinucleotide repeat expansions. Muscle Nerve 18:782-783
    • (1995) Muscle Nerve , vol.18 , pp. 782-783
    • Stoll, G.1    Von Giesen, H.J.2    Koch, M.C.3    Arendt, G.4    Benecke, R.5
  • 12
    • 0028334933 scopus 로고
    • Myotonic dystrophy with no trinucleotide repeat expansion
    • Thornton CA, Griggs RC, Moxley RT (1994) Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 35:269-272
    • (1994) Ann Neurol , vol.35 , pp. 269-272
    • Thornton, C.A.1    Griggs, R.C.2    Moxley, R.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.