Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy

Neurology

Volumn 51, Issue 2, 1998, Pages 592-595

  Mirabella, M ^b   Galluzzi, G ^b   Manfredi, G ^b   Bertini, E ^b   Ricci, E ^b   De Leo, R ^b   Tonali, P ^b   Servidei, S ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

ARTICLE; CONGENITAL CATARACT; DISEASE ASSOCIATION; GENE DELETION; GENE THERAPY; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PRIORITY JOURNAL;

EID: 0031722730     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.2.592     Document Type: Article

References (10)

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2. Hoffman EP, Fischbeck KH, Brown RH, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988;318:1363-1368.
3. Kurihara T, Kishi M, Saito N, Komoto M, Hidaka T, Kinoshita M. Electrical myotonia and cataract in X-linked muscular dystrophy (mdx) mouse. J Neurol Sci 1990;99:83-92.
4. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-48.
5. England SB, Nicholson LVB, Johnson MA, et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 1990;342:180-182.
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7. Deconinck AE, Rafael JA, Skinner JA, et al. Utrophindystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell 1997;90:717-727.
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9. Griggs RC, Moxley RT, Mendell JR, et al. Duchenne dystrophy: randomized, controlled trial of prednisone (18 months) and azathioprine (12 months). Neurology 1993;43: 520-527.
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