Các mục trong cơ sở dữ liệu đột biến bệnh cơ nhỡ Duchenne Leiden: Tổng quan về các loại đột biến và các trường hợp nghịch lý xác nhận quy tắc khung đọc
Tóm tắt
Bệnh cơ nhỡ Duchenne nặng và bệnh cơ nhỡ Becker nhẹ đều do đột biến trong gen
Từ khóa
#Duchenne muscular dystrophy; Becker muscular dystrophy; DMD gene; dystrophin; reading-frame rule; genotype–phenotype correlations; mutation variabilityTài liệu tham khảo
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Emery AEH, 2003, Duchenne muscular dystrophy, 26
Gangopadhyay SB, 1992, Dystrophin in frameshift deletion patients with Becker muscular dystrophy, Am J Hum Genet, 51, 562
Gillard EF, 1989, Molecular and phenotypic analysis of patients with deletions within the deletion‐rich region of the Duchenne muscular dystrophy (DMD) gene, Am J Hum Genet, 45, 507
Helderman‐van den Enden ATJM, 2005, Update on the recurrence risk and origin of de novo mutation in Duchenne and Becker muscular dystrophy, Neuromuscul Disord, 15, 720
Koenig M, 1989, The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion, Am J Hum Genet, 45, 498
Roberts RG, 1991, Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes, Am J Hum Genet, 49, 298
Winnard AV, 1995, Frameshift deletions of exons 3–7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production, Am J Hum Genet, 56, 158