TY - JOUR
T1 - Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients
AU - Shomrat, R.
AU - Gluck, E.
AU - Legum, C.
AU - Shiloh, Y.
PY - 1994
Y1 - 1994
N2 - Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the X-linked dystrophin gene. The most common mutations in western populations are deletions that are spread non-randomly throughout the gene. Molecular analysis of the dystrophin gene structure by hybridization of the full length cDNA to Southern blots and by PCR in 62 unrelated Israeli male DMD/BMD patients showed deletions in 23 (37%). This proportion is significantly lower than that found in European and North American populations (55-65%). Seventy-eight percent of the deletions were confined to exons 44-52, half of these to exons 44-45, and the remaining 22% to exons 1 and 19. There was no correlation between the size of the deletion and the severity of the disease. All the deletions causing frameshift resulted in the DMD phenotypes.
AB - Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the X-linked dystrophin gene. The most common mutations in western populations are deletions that are spread non-randomly throughout the gene. Molecular analysis of the dystrophin gene structure by hybridization of the full length cDNA to Southern blots and by PCR in 62 unrelated Israeli male DMD/BMD patients showed deletions in 23 (37%). This proportion is significantly lower than that found in European and North American populations (55-65%). Seventy-eight percent of the deletions were confined to exons 44-52, half of these to exons 44-45, and the remaining 22% to exons 1 and 19. There was no correlation between the size of the deletion and the severity of the disease. All the deletions causing frameshift resulted in the DMD phenotypes.
KW - Duchenne muscular dystrophy
KW - X-linked dystrophin gene
KW - dystrophin deletions
UR - http://www.scopus.com/inward/record.url?scp=0028084292&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320490403
DO - 10.1002/ajmg.1320490403
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AN - SCOPUS:0028084292
SN - 0148-7299
VL - 49
SP - 369
EP - 373
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -