MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients

Neuromuscular Disorders

Volumn 18, Issue 8, 2008, Pages 667-670

  Todorova, Albena ^a,b   Todorov, Tihomir ^a,b   Georgieva, Bilyana ^a   Lukova, Michaela ^b   Guergueltcheva, Velina ^c   Kremensky, Ivo ^a   Mitev, Vanyo ^a  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b Genetic Medico Diagnostic Laboratory Genica   (Bulgaria)

^c UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

Author keywords

Deletions; DMD gene; Duchenne Becker muscular dystrophy; Duplications; Dystrophin; MLPA; Point mutations

Indexed keywords

ARTICLE; BECKER MUSCULAR DYSTROPHY; CAPILLARY ELECTROPHORESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DMD GENE; DNA POLYMORPHISM; DUCHENNE MUSCULAR DYSTROPHY; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MALE; MUSCULAR DYSTROPHY; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

BULGARIA; DYSTROPHIN; ELECTROPHORESIS, CAPILLARY; EXONS; FEMALE; GENE DELETION; GENE FREQUENCY; HETEROZYGOTE; HUMANS; INFANT; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHENOTYPE;

EID: 48549106970     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.06.369     Document Type: Article

References (9)

1. DMD Genetic Therapy Group. Leiden muscular dystrophy pages 1997. Available from: http://www.dmd.nl.
2. Aartsma-Rus A., Van Deutekom J.C., Fokkema I.F., Van Ommen G.J., and Den Dunnen J.T. 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 34 2 (2006) 135-144
3. White S.J., Aartsma-Rus A., Flanigan K.M., Weiss R.B., Kneppers A.L., Lalic T., et al. Duplications in the DMD gene. Hum Mutat 27 9 (2006) 938-945
4. Bronzova J., Todorova A., and Kalaydjieva L. Detection of carriers of deletions in the dystrophin gene in Bulgarian DMD-BMD families. Hum Genet 93 (1994) 170-174
5. Miorin M., Todorova A., Vitiello L., Rosa M., Mostacciuolo M.L., and Danieli G.A. Detection of heterozygotes for intragenic deletions in families with recurrence of Duchenne or Becker muscular dystrophy. Basic Appl Myol 7 3 (1997) 265-269
6. MRC Holland, Amsterdam. Available from: http://www.mlpa.com.
7. Greener M.J., Sewry C.A., Muntoni F., and Roberts R.G. The 3′-untranslated region of the dystrophin gene - conservation and consequences of loss. Eur J Hum Genet 10 7 (2002) 413-420
8. Chamberlain J.S., Gibbs R.A., Ranier J.E., Nguyen P.N., and Caskey C.T. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16 (1988) 11141-11156
9. 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