Dystrophinopathy diagnosis made easy: Skin biopsy, an emerging novel tool

Journal of Child Neurology

Volumn 29, Issue 4, 2014, Pages 569-574

  Chakrabarty, Biswaroop ^a   Sharma, M C ^a   Gulati, Sheffali ^a   Kabra, Madhulika ^a   Pandey, R M ^a   Sarkar, Chitra ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Becker muscular dystrophy; Duchenne; dystrophinopathy; gene deletion; gold standard; muscle biopsy; skin biopsy

Indexed keywords

ARTICLE; CHILD; CHILDHOOD DISEASE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE COURSE; DYSTROPHINOPATHY; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MINIMALLY INVASIVE PROCEDURE; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SKIN BIOPSY;

EID: 84898937323     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813482769     Document Type: Article

References (23)

1. Escolar DM Pediatric Neurology Principles and Practice. 2, 4th ed., SwaimanKFAshwalSFerrieroDM, eds. Philadelphia, PA: Mosby Elsevier; 2006. Swaiman KF Ashwal S Ferriero DM, ed. Philadelphia, PA: Mosby Elsevier ; 2006:
2. Tanveer N, Sharma MC, Sarkar C, et al. Diagnostic utility of skin biopsy in dystrophinopathies. Clin Neurol Neurosurg. 2009 ; 111: 496-502
3. Marbini A, Marcello N, Bellanova MF, et al. Dystrophin expression in skin biopsy Immunohistochemical localization of striated muscle type dystrophin. J Neurol Sci. 1995 ; 129: 29-33
4. Marbini A, Bellanova MF, Guidetti D, et al. Immunohistochemical localization of utrophin and other cytoskeletal proteins in skin smooth muscle in neuromuscular diseases. J Neurol Sci. 1996 ; 143: 156-160
5. Niyama T, Higuchi I, Sakoda S, et al. Diagnosis of dystrophinopathy by skin biopsy. Muscle Nerve. 2002 ; 25: 398-401
6. Sewry CA, Philpot J, Sorokin LM, et al. Diagnosis of merosin deficient congenital muscular dystrophy by skin biopsy. Lancet. 1996 ; 347: 582-584
7. Squarzoni S, Villanova M, Sabatelli P, et al. Intracellular detection of lamininα2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and lamininα2 chain deficient subjects. Neuromuscul Disord. 1997 ; 7: 91-98
8. Marbini A, Bellanova MF, Lodesani M, et al. Immunohistochemical study of merosin-negative congenital muscular dystrophy: lamininα2 deficiency in skin biopsy. Acta Neuropathol. 1997 ; 94: 103-108
9. Chae J, Lee JS, Hwang H, et al. Merosin-deficient congenital muscular dystrophy in Korea. Brain Dev. 2009 ; 31: 341-346
10. Manilal S, Sewry CA, Man N, et al. Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. Neuromuscul Disord. 1997 ; 7: 63-66
11. Mallebrera CJ, Maioli M, Kim J, et al. A comparative analysis of collagen 6 production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord. 2006 ; 16: 571-582
12. Vainzof M, Anderson LVB, McNally EM, et al. Dysferlin protein analysis in Limb-Girdle muscular dystrophies. J Mol Neurosci. 2001 ; 7: 71-80
13. Byers TJ, Kunkel LM, Watkins SC. The subcellular distribution of dystrophin in mouse skeletal, cardiac and smooth muscle. J Cell Biol. 1991 ; 115: 411-421
14. Miyatake M, Mike T, Zhao J, et al. Possible systemic smooth muscle layer dysfunction due to a deficiency of dystrophin in Duchenne muscular dystrophy. J Neurol Sci. 1989 ; 93: 11-17
15. Borrelli O, Salvia G, Mancini G, et al. Evolution of gastric electrical features and gastric emptying in children with Duchenne and Becker muscular dystrophy. Am J Gastroenterol. 2005 ; 100: 695-702
16. Camelo AL, Awad RA, Madrazo A, Aguilar F. Esophageal motility disorders in Mexican patients with Duchenne muscular dystrophy. Acta Gastroenterol Latinoam. 1997 ; 27: 119-122
17. Marcello N, Baratti M, Ortaggio F, et al. Sympathetic skin response in patients with Duchenne muscular dystrophy. Electromyogr Clin Neurophysiol. 1995 ; 35: 387-395
18. Noordeen MH, Haddad FS, Muntoni F, Gobbi Phollyer JS, Bentley G. Blood loss in Duchenne muscular dystrophy: vascular smooth muscle dysfunction. J Pediatr Orthop. 1999 ; 8: 212-215
19. 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. 2006 ; 15: 2266-2275
20. Snell RS. Basic Anatomy, in Clinical Anatomy by Regions. 8 th ed. Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins; 2008. Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins ; 2008:
21. North AJ, Glaskiewicz V, Byers TJ. Complementary distribution of vinculin and dystrophin in two distinct sarcolemma domains in smooth muscle. J Cell Biol. 1993 ; 120: 1159-1167
22. Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010 ; 9: 77-93
23. Courdier-Fruh I, Barman L, Briguet A, Meier T. Glucocorticoid-mediated regulation of utrophin levels in human muscle fibers. Neuromuscul Disord. 2002 ; 12: S95 - S104