Correlation of muscle fiber type measurements with clinical and molecular genetic data in Duchenne muscular dystrophy

Neuromuscular Disorders

Volumn 9, Issue 3, 1999, Pages 150-158

  Wang, Jian Feng ^a   Forst, Jürgen ^a   Schröder, Sebastian ^a   Schröder, J Michael ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Duchenne muscular dystrophy; Dystrophin; Exon deletion; Morphometry; Muscle fiber type

Indexed keywords

DYSTROPHIN;

ADIPOSE TISSUE; ADOLESCENT; ARTICLE; CLINICAL ARTICLE; CONNECTIVE TISSUE; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; HISTOCHEMISTRY; HISTOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MORPHOMETRICS; MUSCLE BIOPSY; MUSCLE CELL; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SCHOOL CHILD;

ADOLESCENT; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; DYSTROPHIN; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE FIBERS, FAST-TWITCH; MUSCLE FIBERS, SLOW-TWITCH; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; POLYMERASE CHAIN REACTION;

EID: 0032791810     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00114-X     Document Type: Article

References (48)

1. Meryon, E. On granular and fatty degeneration of the voluntary muscles. Med Chir Trans 1852;35:73-84.
2. Duchenne GB. De I'electrisation localisée et de son application à la pathologie et à la thérapeutique, third ed. Paris: Baileière, 1872.
3. Hoffman E.P., Brown R.H.J., Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 51:1987;919-928.
4. Mastaglia FL, Kakulas BA. X-linked dystrophies: clinical and pathological features. In: Lane RJM, editor. Handbook of muscle disease. Marcel Dekker: New York, 1996:201-221.
5. Zubrzycka-Gaarn E.E., Bulman D.E., Karpati G,et al. The Duchenne muscular dystrophy gene product is localised in sarcolemma of human muscle. Nature. 333:1988;466-469.
6. Acsardi G., Dickson G., Love D.R.M,et al. Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature. 352:1991;815-818.
7. Davies K.E. Challenges in Duchenne muscular dysrophy. Neuromusc Disord. 7:1997;482-486.
8. Johnson MA, Barron MJ. Muscle biopsy analysis. In: Lane RJM, editor. Handbook of muscle disease. Marcel Dekker: New York, 1996:61-79.
9. Stephens H.R., Duance V.C., Dunn M.J., Bailey A.J., Dubowitz V. Collagen types in neuromuscular diseases. J Neurol Sci. 53:1982;45-62.
10. Forst R., Forst J. Importance of lower limb surgery in Duchenne muscular dystrophy. Arch Orthop Trauma Surg. 114:1995;106-111.
11. Forst R., Mortier W. Zur medizinischen Behandlung der Duchenne-Muskeldystrophie. Der Kinderarzt. 21:1990;1256-1261.
12. Engel AG, Yamamoto M, Fischbeck KH: Dystrophinopathies. In: Engel AG, Clara Franzini-Armstrong, editors. Myology, second ed. McGraw-Hill: New York, 1994:1133-1187.
13. Rideau Y., Duport G., Delauber A. Premières rémissions reproductibles dans I'èvolution de la dystrophie musculaire de Duchenne. Bull Acad Nat Méd. 170:1986;605-610.
14. Sage FP. Inheritable progressive neuromuscular disorders. In: Crenshaw AH, editor. Campell's operative orthopaedics, eighth ed. 1992;4:2465-2498.
15. Forst J., Forst R. Lower limb surgery in Duchenne muscular dystrophy. Neuromusc Disord. 3:1998;266.
16. Rideau Y., Duport G., Delaubier A., Guillou C., Renardel lrani A., Bach J.R. Early treatment to preserve quality of locomotion for children with Duchenne muscular dystrophy. Sem Neurol. 15:1995;9-17.
17. Bach J.R., McKeon J. Orthopedic surgery and rehabilitation for the prolongation of brace-free ambulation of patients with Duchenne muscular dystrophy. Am J Phys Med Rehabil. 70:1991;323-331.
18. Bonnet I., Burgot D., Bonnard C., Glorion B. Surgical management of lower limbs contractures in Duchenne muscular dystrophy. Fr J Orthol Surg. 5:1991;160-168.
19. Riccio V., Riccardi G., Cervone de Martino M., Stanzione P., Marrone G. Early treatment of lower limb deformities and preliminary muscular studies with ultrasound in Duchenne muscular dystrophy. Acta Cardiomiol. 3:1991;149-154.
20. Politano L., Riccio V., Comi L.I,et al. Surgical treatment in Duchenne muscular dystrophy. Acta Cardiomiol. 4:1992;165-177.
21. Naumann T., Kollmannsberger A., Weiss S., Puhl W. The Ulm concept for the orthopaedic treatment of Duchenne muscular dystrophy aiming at improving and regaining walking and standing ability. Acta Cardiomiol. 4:1992;133-157.
22. Dubowitz V, Brooke MH. Muscle Biopsy: a Modern Approach. Saunders: London, 1985:335-356.
23. Nicholson L.V.B., Johnson M.A., Gardner-Medwin D. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol. 80:1990;239-250.
24. Nicholson L.V.B., Johnson M.A., Bushby K.M., Gardner-Medwin D. Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy. Arch Dis Child. 68:1993;632-636.
25. Beggs A.H., Hoffman E.P., Synder J.R,et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet. 49:1991;54-67.
26. Ward P.A., Hejtmancik J.F., Witkowski J.S,et al. Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis. Am J Hum Genet. 44:1989;270-281.
27. Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, editors. PCR protocols: a guide to methods and application. San Diego, CA: Academic Press, 1990:272-281.
28. Rideau Y., Janowski L.W., Grellet J. Respiratory function in the muscular dystrophies. Muscle Nerve. 4:1981;155-164.
29. Forst R., Krönchen-Kaufmann A., Forst J. Duchenne-Muskeldystrophie-Kontraktur-prophylaktische Operationen der unteren Extremitäten unter besonderer Berücksichtigng anästhesiologischer Aspekte. Klin Pädiatr. 203:1991;24-27.
30. Forst R., Forst J. Krankengymnastik nach operativer Kontrakturbehandlung bei Duchenne-Muskeldystrophie. Krankengymnastik. 42:1990;138-142.
31. Cros D., Handnen P., Pelissier J.F., Serratice G. Muscle hypertrophy in Duchenne muscular dystrophy: a pathological and morphometric study. J Neurol. 236:1989;43-47.
32. Yamamoto H., Brengman J.M., McCormick D.J. Dystrophin deficiency examined by combined PCR, immunoblot and immunostain analysis. Neurology. 43:1993;A293.
33. Gold R., Meurers B., Reichmann H. Duchenne muscular dystrophy: evidence for somatic reversion of the mutation in man. Neurology. 40:1990;494-501.
34. Burrow K.L., Coovert D.D., Klein C.J. Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. Neurology. 41:1991;661-669.
35. Hoffman E.P., Morgan J.E., Watkins S.C., Partridge T.A. Somatic reversion/ suppression of the mouse mdx phenotype in vivo. J Neurol Sci. 99:1990;9-18.
36. Tanaka H., Hayashi K., Ozawa E., Partridge T.A. Positive immunostaining with dystrophin antibodies in mdx skeletal muse. Proc Acad. 67:1991;148-159.
37. Zhao J., Yoshioka K., Miike T., Miyatake M. Developmental studies of dystrophin-positive fibers in mdx and DRP localization. J Neurol Sci. 114:1993;104-112.
38. Winnard A.V., Jia-Hsu Y., Gibbs R.A. Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet. 1:1992;645-653.
39. Klein C.J., Coovert D.D., Bulman D.E., Ray P.N., Mendell J.R., Burghes A.H.M. Somatic reversion suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet. 50:1992;950-959.
40. Uchino M., Tokunaga M., Mita S,et al. PCR and immunocytochemical analyses of dystrophin-positive fibers in Duchenne muscular dystrophy. J Neurol Sci. 129:1995;44-50.
41. Wallgren-Pettersson C., Jasani B., Rosser L.G., Lazarou L.P., Nicholson L.V.B., Clarke A. Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity. J Neurol Sci. 118:1993;56-63.
42. Narita N., Nishio H., Kitoh Y,et al. Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J Clin Invest. 91:1993;1862-1867.
43. Morris G.E. Dystrophin is replaced by utrophin in frog heart; implications for muscular dystrophy. Neuromusc Disord. 7:1997;493-498.
44. Morandi L., Mora M., Bernasconi P. Very small dystrophin molecule in a family with a mild form of Becker dystrophy. Neuromusc Disord. 3:1993;65-70.
45. Hoffman EP. Genotype/phenotype correlations in Duchenne/Becker dystrophy. In: Partridge TA, editor. Molecular and cell biology of muscular dystrophy. London: Chapman Hall, 1993:12-36.
46. Fanin M., Freda M.P., Vitiello M.L., Danieli G.A., Pegoraro E., Angelini C. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size? Muscle Nerve. 19:1996;1154-1160.
47. Bushby K.M.D. Genetic and clinical correlations in Xp21 muscular dystrophy. J Inherit Metab Dis. 5:1992;551-564.
48. England S.B., Nicholson L.V.B., Johnson M.A,et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature. 343:1990;180-182.