Duchenne/Becker muscular dystrophy: A report on clinical, biochemical, and genetic study in Gujarat population, India

Annals of Indian Academy of Neurology

Volumn 17, Issue 3, 2014, Pages 303-307

  Rao, Mandava V ^a   Sindhav, Gaurang M ^a   Mehta, Jitendra J ^b  

^a GUJARAT UNIVERSITY   (India)

^b Indian Muscular Dystrophy society (IMDS)   (India)

Author keywords

Duchenne Becker muscular dystrophy; dystrophin gene; exon deletion

Indexed keywords

CREATINE KINASE; DYSTROPHIN; LACTATE DEHYDROGENASE; MYOGLOBIN;

ARTICLE; BECKER MUSCULAR DYSTROPHY; CHEMICAL ANALYZER; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE DELETION; GENETIC ANALYSIS; HUMAN; INDIA; LACTATE DEHYDROGENASE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; ONSET AGE; PILOT STUDY; PROTEIN BLOOD LEVEL;

EID: 84906230127     PISSN: 09722327     EISSN: 19983549     Source Type: Journal    
DOI: 10.4103/0972-2327.138508     Document Type: Article

References (29)

1. Mercuri E, Muntoni F. Muscular dystrophies. Lancet 2013;381:845-60.
2. Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve 2000;23:1456-71.
3. Ervasti JM. Dystrophin, its interactions with other proteins, and implications for muscular dystrophy. Biochim Biophys Acta 2007;1772:108-17.
4. Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, et al. United Dystrophinopathy Project Consortium, Weiss RB. Mutational spectrum of DMD mutations in dystrophinopathy patients: Application of modern diagnostic techniques to a large cohort. Hum Mutat 2009;30:1657-66.
5. Emery AE. Population frequencies of inherited neuromuscular diseases-A world survey. Neuromuscul Disord 1991;1:19-29.
6. Den Dunnen JT, Grootscholten PM, Dauwerse JG, Walker AP, Monaco AP, Butler R, et al. Reconstruction of the 2.4 Mb human DMD gene by homologous YAC recombination. Hum Mol Genet 1992;1:19-28.
7. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010;9:77-93.
8. Bushby KM, Thambyayah M, Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. Lancet 1991;337:1022-4.
9. Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.
10. Kunkel LM, Monaco AP, Hoffman E, Koenig M, Feener C, Bertelson C. Molecular studies of progressive muscular dystrophy (Duchenne). Enzyme 1987;38:72-5.
11. Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/ Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet 2010;55:379-88.
12. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988;16:11141-56.
13. 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.
14. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-8.
15. Kunkel LM, Snyder JR, Beggs AH, Boyce FM, Feener CA. Searching for dystrophin gene deletions in patients with atypical presentations. In: lindsten J, Petterson U, editor. Etiology of Human Diseases at the DNA Level. New York: Raven Press; 1991. p. 51-60.
16. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-5.
17. Dastur RS, Gaitonde PS, Khadilkar SV, Nadkarni JJ. Becker muscular dystrophy in Indian patients: Analysis of dystrophin gene deletion patterns. Neurol India 2008;56:374-8.
18. Munsat TL, Baloh R, Pearson CM, Fowler W Jr. Serum enzyme alterations in neuromuscular disorders. JAMA 1973;226:1536-43.
19. Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002;82:291-329.
20. Rowland LP. Biochemistry of muscle membranes in Duchenne muscular dystrophy. Muscle Nerve 1980;3:3-20.
21. Sambrook J, Russel DW. Molecular cloning: A laboratory manual, 3rd ed. New York: Cold Spring Harbor Laboratory Press; 2001.
22. Den Dunnen JT. Leiden muscular dystrophy pages. Center for human and clinical genetics, Leiden university medical center. DMD exonic deletions/duplications reading frame checker 1.9. Available from: Http://www.dmd.nl/ [Last updated on 2009 Mar 03].
23. Nadkarni JJ, Dastur RS, Viswanathan V, Gaitonde PS, Khadilkar SV. Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation. Neurol India 2008;56:248-53.
24. Khalap NV, Joshi VP, Ladiwalla U, Khadilkar SV, Mahajan SK. A report on higher frequency of DMD gene deletion in the Indian subcontinent. Indian J Hum Genet 1997;3:117-20.
25. Murugan S, Chandramohan A, Lakshmi BR. Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis. Indian J Med Res 2010;132:303-11.
26. Aartsma-Rus A, VanDeutekom JC, Fokkema IF, VanOmmen 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.
27. Pandey GS, Kesari A, Mukherjee M, Mittal RD, Mittal B. Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy. Neurol India 2003;51:367-9.
28. Rosalki SB. Serum enzymes in disease of skeletal muscle. Clin Lab Med 1989;9:767-81.
29. Swaminathan B, Shubha GN, Shubha D, Murthy AR, Kiran Kumar HB, Shylashree S, et al. Duchenne muscular dystrophy: A clinical, histopathological and genetic study at a neurology tertiary care center in Southern India. Neurol India 2009;57:734-8.