Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns

Neurology India

Volumn 56, Issue 3, 2008, Pages 374-378

  Dastur, Rashna ^a   Gaitonde, Pradnya ^a   Khadilkar, Satish ^a   Nadkarni, Jayshree ^a  

^a BOMBAY HOSPITAL   (India)

Author keywords

Becker muscular dystrophy; Dystrophin gene; In frame deletions; Out frame deletions

Indexed keywords

DYSTROPHIN; GENOMIC DNA;

ADOLESCENT; ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; BECKER MUSCULAR DYSTROPHY; CONTROLLED STUDY; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHIN GENE; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INDIA; INDIAN; MULTIPLEX POLYMERASE CHAIN REACTION; PHENOTYPE; PROSPECTIVE STUDY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; FEMALE; GENE DELETION; HUMANS; INDIA; MALE; MUSCULAR DYSTROPHY, DUCHENNE; PHENOTYPE; PROSPECTIVE STUDIES; YOUNG ADULT;

EID: 56049087976     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.40961     Document Type: Article

References (23)

1. Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve 2000;23:1456-71.
2. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988;53:219-28.
3. Emery AE. The muscular dystrophies. Lancet 2002;359:687-95.
4. Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion. Am J Hum Genet 1989;45:498-506.
5. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotype differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-5.
6. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions. Hum Genet 1990;86:45-8.
7. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucl Acid Res 1988;16:11141-56.
8. Den Dunnen JT. Leiden Muscular Dystrophy pages. Center for human and Clinical Genetics, Leiden University Medical Center. DNA based diagnostic techniques for DMD/BMD Deletion Detection using multiplex PCR [updated on 2005 Mar 16]. Available from: http://www.dmd.nl/.
9. Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In: PCR protocols: A guide to methods and applications. Innis MA, Gelfand DH, Sninsky J, White TJ, editors. New York, London; Academic Press; 1990; 272-81.
10. Den Dunnen JT. Leiden Muscular Dystrophy pages. Center for Human and Clinical Genetics, Leiden University Medical Center. DMD exonic deletions/duplications reading-frame checker 1.6 [updated on 2005 Mar 16]. Available from: http://www.dmd.nl/.
11. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne Muscular Dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading frame rule. Muscle Nerve 2006;34:135-44.
12. Pandey GS, Kesari A, Mukherjee M, Mittal RD, Mittal B. Re-evaluation of reading frame shift hypothesis in Duchenne and Becker muscular dystrophy. Neurology India 2003;51:367-9.
13. Ramelli GP, Joncourt F, Luetschg J, Weis J, Tolnay M, Burgunder JM. Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series. Swiss Med Wkly 2006;136:189-93.
14. Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, et al. Exploring the molecular basis for variability among patients with Becker Muscular Dystrophy: Dystrophin gene and protein studies. Am J Hum Genet 1991;49:54-67.
15. Winnard AV, Klein CJ, Coovert DD, Prior T, Papp A, Snyder P, et al. Characterization of translation frame exception patients in Duchenne/ Becker muscular dystrophy. Hum Mol Genetics 1993;2:737-44.
16. Fanin M, Freda MP, Vitiello L, Danieli GA, Pegoraro E, Angelini C. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size? Muscle Nerve 1996;19:1154-60.
17. Nevo Y, Muntoni F, Sewry C, Legum C, Kutai M, Harel S, et al. Large in frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. Isr Med Assoc J 2003;5:94-7.
18. Singh V, Sinha S, Mishra S, Chaturvedi LS, Pradhan S, Mittal RD, et al. Proportion and pattern of dystrophin gene deletion in North Indian Duchenne and Becker Muscular dystrophy patients. Human Genetics 1997;99:206-8.
19. Banerjee M, Verma IC. Are there ethnic differences in deletions in the dystrophin gene? Am J Med Genet 1997;68:152-7.
20. Mital A, Kumari D, Gupta M, Goyle S. Molecular characterisation of Duchenne muscular dystrophy and phenotypic correlation. J Neurol Sci 1998;157:179-86.
21. Kumari D, Mital A, Gupta M, Goyle S. Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: Use in carrier diagnosis. Neurol India 2003;51:223-6.
22. Dastur R, Gaitonde P, Khadilkar S, Nadkarni J. Deletion analysis of Duchenne/Becker muscular dystrophy gene using multiplex polymerase chain reaction. Ann Indian Acad Neurol 2004;7:333-7.
23. Basak J, Dasgupta UB, Banerjee TK, Senapati AK, Das SK, Mukherjee SC. Analysis of dystrophin gene deletions by multiplex PCR in eastern India. Neurol India 2006;54:310-11.