MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy

Hoffman, 1987, Dystrophin: the protein product of the Duchenne muscular dystrophy locus, Cell, 51, 919, 10.1016/0092-8674(87)90579-4 Bushby, 2010, Diagnosis and management of Duchenne muscular dystrophy, Part 1: diagnosis, and pharmacological and psychosocial management, Lancet Neurol, 9, 77, 10.1016/S1474-4422(09)70271-6 Ceulemans, 2008, Muscle pain as the only presenting symptom in a girl with dystrophinopathy, Pediatr Neurol, 38, 64, 10.1016/j.pediatrneurol.2007.09.006 Hoogerwaard, 1999, Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study, Lancet, 353, 2116, 10.1016/S0140-6736(98)10028-4 Yilmaz, 2010, Cardiomyopathy in a Duchenne muscular dystrophy carrier and her diseased son: similar pattern revealed by cardiovascular MRI, Circulation, 121, e237, 10.1161/CIR.0b013e3181d74468 Walcher, 2010, Cardiac involvement in a female carrier of Duchenne muscular dystrophy, Int J Cardiol, 138, 302, 10.1016/j.ijcard.2008.06.084 Moser, 1974, The manifesting carrier in Duchenne muscular dystrophy, Clin Genet, 5, 271, 10.1111/j.1399-0004.1974.tb01694.x Song, 2011, Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy, Yonsei Med J, 52, 192, 10.3349/ymj.2011.52.1.192 Boyd, 1986, Muscular dystrophy in girls with X;autosomal translocations, J Med Genet, 23, 484, 10.1136/jmg.23.6.484 Gualandi, 2011, Whole genetic and protein characterization in DMD symptomatic female carriers excludes correlation with X-inactivation and transcriptional DMD allele balancing, Neuromuscul Disord, D21, 517 Arahata, 1989, Mosaic expression of dystrophin in symptomatic carriers of Duchenne’s muscular dystrophy, N Engl J Med, 19, 138, 10.1056/NEJM198901193200302 Griggs, 1985, Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection, Muscle Nerve, 8, 60, 10.1002/mus.880080111 Norman, 1989, A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales, Clin Genet, 36, 31, 10.1111/j.1399-0004.1989.tb03363.x Grain, 2001, Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls, Neuromuscul Disord, 11, 186, 10.1016/S0960-8966(00)00185-1 Meola, 1981, Manifesting carrier of X-linked Duchenne muscular dystrophy, J Neurol Sci, 49, 455, 10.1016/0022-510X(81)90034-4 Yoon, 2011, Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis, J Korean Med Sci, 26, 587, 10.3346/jkms.2011.26.4.587 Matsumura, 1989, Duchenne muscular dystrophy carriers. Proton spin-lattice relaxation times of skeletal muscles on magnetic resonance imaging, Neuroradiology, 31, 373, 10.1007/BF00343858 Wang, 2009, Relaxation times of skeletal muscle metabolites at 7T, J Magn Reson Imaging, 29, 1457, 10.1002/jmri.21787 Gold, 2004, At 3.0T: relaxation times and image contrast, Am J Roentgenol, 183, 343, 10.2214/ajr.183.2.1830343 Maier, 2003, T2 quantitation of articular cartilage at 1.5 T, J Magn Reson Imaging, 17, 358, 10.1002/jmri.10263 Elliott, 1999, Spectral quantitation by principal component analysis using complex singular value decomposition, Magn Reson Med, 41, 450, 10.1002/(SICI)1522-2594(199903)41:3<450::AID-MRM4>3.0.CO;2-9 Whittall, 1989, Quantitative interpretation of NMR relaxation data, J Magn Reson, 84, 134 Zhao, 2005, An interactive software for 3D chemical shift imaging data analysis and real time spectral localization and quantification, Proc Int Soc Mag Reson Med, 13, 2465 Mathur, 2010, Age-related differences in lower-limb muscle cross-sectional area and torque production in boys with Duchenne muscular dystrophy, Arch Phys Med Rehabil, 91, 1051, 10.1016/j.apmr.2010.03.024 Brookes, 1981, Clinical trials in Duchenne dystrophy. I: The design of the protocol, Muscle Nerve, 4, 186, 10.1002/mus.880040304 Glover, 1991, Three-point Dixon technique for true water/fat decomposition with B0 inhomogeneity correction, Magn Reson Med, 18, 371, 10.1002/mrm.1910180211 Wren, 2008, Three-point technique of fat quantification of muscle tissue as a marker of disease progression in Duchenne muscular dystrophy: preliminary study, Am J Roentgenol, 190, W8, 10.2214/AJR.07.2732 Gloor, 2011, Quantification of fat infiltration in oculopharyngeal muscular dystrophy: comparison of three MR imaging methods, J Magn Reson Imaging, 33, 203, 10.1002/jmri.22431 Kan, 2009, Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy, Neuromuscul Disord, 19, 357, 10.1016/j.nmd.2009.02.009 Loganathan, 2005, Characterization of alterations in diabetic myocardial tissue using high resolution MRI, Int J Cardiovasc Imaging, 22, 81, 10.1007/s10554-005-5386-6 Foley, 1999, MR measurements of muscle damage and adaptation after eccentric exercise, J Appl Physiol, 87, 2311, 10.1152/jappl.1999.87.6.2311 Mathur, 2011, Changes in muscle T2 and tissue damage after downhill running in mdx Mice, Muscle Nerve, 43, 878, 10.1002/mus.21986 Marqueste, 2008, Comparative MRI analysis of T2 changes associated with single and repeated bouts of downhill running leading to eccentric-induced muscle damage, J Appl Physiol, 105, 299, 10.1152/japplphysiol.00738.2007 Ploutz-Snyder, 1997, Different effects of exercise and edema on T2 relaxation in skeletal muscle, Magn Reson Med, 37, 676, 10.1002/mrm.1910370509 Marden, 2005, Compositional analysis of muscle in boys with Duchenne muscular dystrophy using MR imaging, Skeletal Radiol, 34, 140, 10.1007/s00256-004-0825-3 Akima, 2012, Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy, Neuromuscul Disord, 22, 16, 10.1016/j.nmd.2011.06.750 Greeves, 1999, Changes in muscle strength in women following the menopause: a longitudinal assessment of the efficacy of hormone replacement therapy, Clin Sci, 97, 79, 10.1042/CS19980406 Ditroilo, 2010, Effects of age and limb dominance on upper and lower limb muscle function in healthy males and females aged 40–80 years, J Sports Sci, 28, 667, 10.1080/02640411003642098 Guyatt, 1985, The 6-minute walk: a new measure of exercise capacity in patients with chronic heart failure, Can Med Assoc J, 132, 919 Society, 2002, ATS statement: guidelines for the six-minute walk test, Am J Respir Crit Care Med, 166, 111, 10.1164/ajrccm.166.1.at1102 McDonald, 2010, The 6-minute walk test in Duchenne/Becker muscular dystrophy: longitudinal observations, Muscle Nerve, 42, 966, 10.1002/mus.21808 McDonald, 2010, The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy, Muscle Nerve, 41, 500, 10.1002/mus.21544 Kierkegaard, 2007, Reliability and feasibility of the six minute walk test in subjects with myotonic dystrophy, Neuromuscul Disord, 17, 943, 10.1016/j.nmd.2007.08.003 Enright, 1998, Reference equations for the six-minute walk in healthy adults, Am J Respir Crit Care Med, 158, 1384, 10.1164/ajrccm.158.5.9710086