[1] Mendell JR,Shilling C,Leslie ND,et al.Evidence-based path to newborn screening for Duchenne muscular dystrophy[J].Ann Neurol,2012,71:304-313.
[2] Bushby K,Finkel R,Birnkrant DJ,et al.Diagnosis and management of Duchenne muscular dystrophy,part 1:diagnosis,and pharmacological and psychosocial management[J].Lancet Neurol,2010,9:77-93.
[3] Nakamura A,Takeda S.Exon-skipping therapy for Duchennemuscular dystrophy[J].Neuropathology,2009,29(4):494-501.
[4] Bushby K,Finkel R,Birnkrant DJ,et al.Diagnosis and management of Duchenne muscular dystrophy,part 2:implementation of multidisciplinary care[J].Lancet Neurol,2010,9:177-189.
[5] Aartsma-Rus A,Van Deutekom JC,Fokkema IF,et al.Entries in the Leiden Duchenne muscular dystrophy mutation database:an overview of mutation types and paradoxical cases that confirm the reading-frame rule[J].Muscle Nerve,2006,34(2):135-144.
[6] Darras BT,Miller DT,Urion DK.Dystrophinopathies[J].//Adam MP,Ardinger HH,Pagon RA,et al.Gene Reviews.Seattle (WA):University of Washington,1993-2010.https://www.nchi.nlm.nih.gov/books/NBK1116/
[7] Hoffman EP,Fischbeck KH,Brown RH,et al.Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy[J].N Engl J Med,1988,318(21):1363-1368.
[8] Melacini P,Fanin M,Danieli GA,et al.Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy[J].Circulation,1996,94(12):3168-3175.
[9] Koenig M,Beggs AH,Moyer M,et al.The molecular basis for Duchenne versus Becker muscular dystrophy:correlation of severity with type of deletion[J].Am J Hum Genet,1989,45(4):498-506.
[10] Bladen CL,Salgado D,Monges S,et al.The TREAT-NMD DMD Global Database:analysis of more than 7,000 Duchenne muscular dystrophy mutations[J].Hum Mutat,2015,36(4):395-402.
[11] Zhou J,Xin J,Niu Y,et al.DMDtoolkit:a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD[J].BMC Bioinformatics,2017,18(1):87-97.
[12] Rao VK.Guidelines for Corticosteroid use in Treatment of DMD[J].Pediatr Neurol Briefs,2016,30(3):21-48.
[13] Biggar WD,Harris VA,Eliasoph L,et al.Long-term benefitsof deflazacort treatment for boys with Duchenne musculardystrophy in their second decade[J].Neuromuscul Disord,2006,16(4):249-255.
[14] Biggar WD,Politano L,Harris VA,et al.Deflazacort inDuchenne muscular dystrophy:a comparison of two differentprotocols[J].Neuromuscul Disord,2004,14(8-9):476-482.
[15] Dezawa M,Ishikawa H,Itokazu Y,et al.Bone marrow stromalcells generate muscle cells and repair muscle degeneration[J].Science,2005,309(5732):314-317.
[16] 许忆峰,杨晓凤,吴雁翔,等.自体骨髓间充质干细胞移植改善进行性肌营养不良症患者运动功能的研究[J].实用医学杂志,2011,27(10):1770-1773. |
