历史
强直性肌营养不良首先由德国医生Hans Gustav Wilhelm Steinert描述,他于1909年首次发表了一系列6例病例。[28]以前发表过孤立的肌强直病例报告,包括Frederick Eustace Batten和Hans的报告因此,Curschmann和1型肌强直性营养不良有时被称为Curschmann-Batten-Steinert综合征。 [29] 1型肌强直性营养不良的根本原因是在1992年确定的。[2]
参考:
"myotonic dystrophy". GHR. 11 October 2016. Archived from the original on 18 October 2016. Retrieved 16 October 2016.
Meola, G; Cardani, R (April 2015). "Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms". Biochimica et Biophysica Acta. 1852 (4): 594–606. doi:10.1016/j.bbadis.2014.05.019. PMID 24882752.
Klein, AF; Dastidar, S; Furling, D; Chuah, MK (2015). "Therapeutic Approaches for Dominant Muscle Diseases: Highlight on Myotonic Dystrophy". Current Gene Therapy. 15 (4): 329–37. doi:10.2174/1566523215666150630120537. PMID 26122101.
Yanoff, Myron; Jay S. Duker (2008). Ophthalmology (3rd ed.). Edinburgh: Mosby. p. 411. ISBN 978-0323057516.
Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barceló J, O'Hoy K (March 1992). "Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene". Science. 255 (5049): 1253–5. Bibcode:1992Sci...255.1253M. doi:10.1126/science.1546325. PMID 1546325.
van der Ven PF, Jansen G, van Kuppevelt TH, Perryman MB, Lupa M, Dunne PW, ter Laak HJ, Jap PH, Veerkamp JH, Epstein HF (November 1993). "Myotonic dystrophy kinase is a component of neuromuscular junctions". Hum. Mol. Genet. 2 (11): 1889–94. doi:10.1093/hmg/2.11.1889. PMID 8281152.
Harley HG, Walsh KV, Rundle S, Brook JD, Sarfarazi M, Koch MC, Floyd JL, Harper PS, Shaw DJ (May 1991). "Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q". Hum. Genet. 87 (1): 73–80. doi:10.1007/BF01213096. PMID 2037285.
Bird, Thomas D. (1 January 1993). "Myotonic Dystrophy Type 1". GeneReviews(®). Archived from the original on 18 January 2017. Retrieved 9 May 2016.update 2015
Turner C, Hilton-Jones D (April 2010). "The myotonic dystrophies: diagnosis and management". J. Neurol. Neurosurg. Psychiatry. 81 (4): 358–67. doi:10.1136/jnnp.2008.158261. PMID 20176601.
Usdin K, House NC, Freudenreich CH (2015). "Repeat instability during DNA repair: Insights from model systems". Crit. Rev. Biochem. Mol. Biol. 50 (2): 142–67. doi:10.3109/10409238.2014.999192. PMC 4454471. PMID 25608779.
Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA (July 2005). "Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy". J. Cell Sci. 118 (Pt 13): 2923–33. doi:10.1242/jcs.02404. PMID 15961406.
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP (February 2003). "Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum". Neurology. 60 (4): 657–64. doi:10.1001/archneur.60.5.657. PMID 12601109.
Dalton, Joline C.; Ranum, Laura PW; Day, John W. (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C., eds. Myotonic Dystrophy Type 2. Seattle (WA): University of Washington, Seattle. PMID 20301639. Archived from the original on 2017-01-28.updated 2013
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (August 2001). "Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9". Science. 293 (5531): 864–7. doi:10.1126/science.1062125. PMID 11486088.
"Juvenile-Onset MMD1". Muscular Dystrophy Association. MDA. Archived from the original on 8 March 2015. Retrieved 17 March 2015.
"Myotonic dystrophy: Etiology, clinical features, and diagnosis". Archived from the original on 2014-02-22. Retrieved 2014-02-15.
Le Ber I, Martinez M, Campion D, Laquerrière A, Bétard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, Hannequin D (September 2004). "A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24". Brain. 127 (Pt 9): 1979–92. doi:10.1093/brain/awh216. PMID 15215218.
Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B, Moxley R (June 2006). "140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management". Neuromuscul. Disord. 16 (6): 403–13. doi:10.1016/j.nmd.2006.03.010. PMID 16684600.
Dany A, Barbe C, Rapin A, Réveillère C, Hardouin JB, Morrone I, Wolak-Thierry A, Dramé M, Calmus A, Sacconi S, Bassez G, Tiffreau V, Richard I, Gallais B, Prigent H, Taiar R, Jolly D, Novella JL, Boyer FC (November 2015). "Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease". Qual Life Res. 24 (11): 2615–23. doi:10.1007/s11136-015-1013-8. PMID 26141500.
Nakamori M, Taylor K, Mochizuki H, Sobczak K, Takahashi MP (January 2016). "Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy". Ann Clin Transl Neurol. 3 (1): 42–54. doi:10.1002/acn3.271. PMC 4704483. PMID 26783549.
Rönnblom A, Andersson S, Hellström PM, Danielsson A (August 2002). "Gastric emptying in myotonic dystrophy". Eur. J. Clin. Invest. 32 (8): 570–4. doi:10.1046/j.1365-2362.2002.01028.x. PMID 12190956.
Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA (December 2007). "Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy". J. Clin. Invest. 117 (12): 3952–7. doi:10.1172/JCI33355. PMC 2075481. PMID 18008009.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC (July 2013). "Strength training and aerobic exercise training for muscle disease". Cochrane Database Syst Rev (7): CD003907. doi:10.1002/14651858.CD003907.pub4. hdl:2066/123481. PMID 23835682.
Cup EH, Pieterse AJ, Ten Broek-Pastoor JM, Munneke M, van Engelen BG, Hendricks HT, van der Wilt GJ, Oostendorp RA (November 2007). "Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review". Arch Phys Med Rehabil. 88 (11): 1452–64. doi:10.1016/j.apmr.2007.07.024. PMID 17964887.
Orngreen MC, Olsen DB, Vissing J (May 2005). "Aerobic training in patients with myotonic dystrophy type 1". Ann. Neurol. 57 (5): 754–7. doi:10.1002/ana.20460. PMID 15852373.
Voet NB, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BG, Geurts AC (January 2010). "Strength training and aerobic exercise training for muscle disease". Cochrane Database Syst Rev (1): CD003907. doi:10.1002/14651858.CD003907.pub3. hdl:2066/123481. PMID 20091552.
Pandya, S; Eichinger, K. "Role of physical therapy in the assessment and management of individuals with myotonic dystrophy". Myotonic Dystrophy Foundation. Archived from the original on 26 September 2015. Retrieved 5 May 2012.
Mishra SK, Singh S, Lee B, Khosa S, Moheb N, Tandon VA (2018). ""Dystrophia Myotonica" and the Legacy of Hans Gustav Wilhelm Steinert". Ann Indian Acad Neurol. 21 (2): 116–118. doi:10.4103/aian.AIAN_182_17. PMC 6073962. PMID 30122835.
Olbrych-Karpińska B, Tutaj A (September 1981). "[Case of Curschmann-Batten-Steinert syndrome]". Wiad. Lek. (in Polish). 34 (17): 1467–9. ISSN 0043-5147. PMID 7331343.