Diagnostic utility of skin biopsy in dystrophinopathies

Clinical Neurology and Neurosurgery

Volumn 111, Issue 6, 2009, Pages 496-502

  Tanveer, Nadeem ^a   Sharma, Mehar C ^a   Sarkar, Chitra ^a   Gulati, Sheffali ^a   Kalra, Veena ^a   Singh, Sumit ^a   Bhatia, Rohit ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Arrectores pilorum muscle cells; Becke muscular dystrophy; Duchenne muscular dystrophy; Dystrophin; Skin biopsy; Utrophin

Indexed keywords

DYSTROPHIN; UTROPHIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHINOPATHY; FROZEN SECTION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTERMETHOD COMPARISON; MUSCLE BIOPSY; MUSCLE CELL; MUSCULAR DYSTROPHY; PROTEIN EXPRESSION; SENSITIVITY AND SPECIFICITY; SKIN BIOPSY;

BIOPSY; CASE-CONTROL STUDIES; DYSTROPHIN; HAIR FOLLICLE; HUMANS; MALE; MUSCLE FIBERS, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; MYOCYTES, SMOOTH MUSCLE; REFERENCE VALUES; SENSITIVITY AND SPECIFICITY; SKIN; UTROPHIN;

EID: 67349194952     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2009.01.011     Document Type: Article

References (25)

1. Monaco A.P., Neve R.L., Colletti-Feener C., Bertelson C.J., Kurnit D.M., and Kunkel L.M. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323 (1986) 646-650
2. Koenig M., Hoffman E.P., Bertelson C.J., Monaco A.P., Feener C., and Kunkel L.M. Complete cloning of the Duchenne muscular dystrophy (DMD) c DNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50 (1987) 509-517
3. Hoffman E.P., Brown Jr. R.H., and Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51 (1987) 919-928
4. Beggs A.H., Koenig M., Boyce F.M., and Kunkel L.M. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86 (1990) 45-48
5. Bonilla E., Samitt C.E., Miranda A.F., Hays A.P., Salviati G., DiMauro S., et al. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 54 (1988) 447-452
6. Hoffman E.P., Knudson C.M., Campbell K.P., and Kunkel L.M. Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 330 (1987) 754-758
7. Hoffman E.P., Fischbeck K.H., Brown R.H., Johnson M., Medori R., Loike J.D., et al. Characterization of dystrophin in muscle biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318 (1988) 1363-1368
8. Zubrzycka-Gaarn E.E., Bulman D.E., Karpati G., Burghes A.H., Belfall B., Klamut H.J., et al. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 333 (1988) 466-469
9. Borrelli O., Salvia G., Mancini G., Santoro L., Tagliente F., Romeo E.F., et al. Evolution of gastric electrical features and gastric emptying in children with Duchenne and Becker muscular dystrophy. Am J Gastroenterol 100 (2005) 695-702
10. Camelo A.L., Awad R.A., Madrazo A., and Aguilar F. Esophageal motility disorders in Mexican patients with Duchenne muscular dystrophy. Acta Gastroenterol Latinoam 27 (1997) 119-122
11. Marcello N., Baratti M., Ortaggio F., Vescoveni E., Zanoni P., Tugnoli V., et al. Sympathetic skin response in patients with Duchenne muscular dystrophy. Electromyogr Clin Neurophysiol 35 (1995) 387-395
12. Noordeen M.H., Haddad F.S., Muntoni F., Gobbi Phollyer J.S., and Bentley G. Blood loss in Duchenne muscular dystrophy: vascular smooth muscle dysfunction. J Pediatr Orthop 8 (1999) 212-215
13. Ito K., Kimura S., Osaza S., Matsukura M., Ikezawa M., Yoshioka K., et al. Smooth muscle specific dystrophin expression improves aberrant vasoregulation in mdx mice. Hum Mol Genet 15 (2006) 2266-2275
14. Nguyen T.M., Ellis J.M., Love D.R., Davies K.E., Gatter K.C., Dickson G., et al. Localization of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophic skeletal muscle, in vascular and other smooth muscles, and in proliferating brain cell lines. J Cell Biol 115 (1991) 1695-1700
15. Winder S.J., Hemmings L., Maciver S.K., Bolton S.J., Tinsley J.M., Davies K.E., et al. Utrophin actin binding domain: analysis of actin binding and cellular targeting. J Cell Sci 108 Pt 1 (1995) 63-71
16. Tanaka H., Ishiguro T., Eguchi C., Saito K., and Ozawa E. Expression of a dystrophin-related protein associated with the skeletal muscle cell membrane. Histochemistry 96 (1991) 1-5
17. Marbini A., Marcello N., Bellanova M.F., Guidetti D., Ferrari A., and Gemignani F. Dystrophin expression in skin biopsy immunohistochemical localisation of striated muscle type dystrophin. J Neurol Sci 129 (1995) 29-33
18. Marbini A., Gemignani F., Bellanova M.F., Guidetti D., and Ferrari A. Immunohistochemical localization of utrophin and other cytoskeletal proteins in skin smooth muscle in neuromuscular diseases. J Neurol Sci 143 (1996) 156-160 [Erratum in: J Neurol Sci 1997;150:181-82]
19. Niiyama T., Higuchi I., Sakoda S., Matsumura T., Fukunaga H., and Osame M. Diagnosis of dystrophinopathy by skin biopsy. Muscle Nerve 25 (2002) 398-401
20. Dubowitz V. Utrophin euphoria. Neuromuscul Disord 7 (1997) 5-6
21. Marbini A., Bellanova M.F., Ferrari A., Lodesani M., and Gemignani F. Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy. Acta Neuropathol 94 (1997) 103-108
22. Khurana T.S., Specht L.A., Beggs A.H., Jome F.M., Lectureg F., Cheuallay M., et al. The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce the misdiagnosis of Duchenne/Becker muscular dystrophy. Biochem Biophys Res Commun 241 (1997) 232-235
23. Maltin C.A., Jones P., and Mantle D. Effect of protease inhibitors and clenbuterol on the in vitro degradation of dystrophin by endogenous proteases in human skeletal muscle. Biosci Rep 13 (1993) 159-167
24. North A.J., Glaskiewicz V., and Byers T.J. Complementary distribution of vinculin and dystrophin in two distinct sarcolemma domains in smooth muscle. J Cell Biol 120 (1993) 1159-1167
25. Pasquini F., Guerin C., and Blake D. The effect of glucocorticoids on the accumulation of utrophin in cultured normal and dystrophic human skeletal muscle satellite cells. Neuromuscul Disord 5 (1995) 105-114