References
- 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. Muscle Nerve. 2006;34(2): 135-144. https://doi.org/10.1002/mus.20586
- Akima H, Lott D, Senesac C, et al. Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with duchenne muscular dystrophy. Neuromuscul Disord. 2012;22(1):16-25. http://dx.doi.org/10.1016/j.nmd.2011.06.750
- Allen DG, Whitehead NP. Duchenne muscular dystrophy--what causes the increased membrane permeability in skeletal muscle? Int J Biochem Cell Biol. 2011;43(3):290-294. http://dx.doi.org/10.1016/j.biocel.2010.11.005
-
Arpan I, Forbes SC, Lott DJ, et al.
$T_2$ mapping provides multiple approaches for the characterization of muscle involvement in neuromuscular diseases: A cross-sectional study of lower leg muscles in 5-15-year-old boys with duchenne muscular dystrophy. NMR Biomed. 2013;26(3): 320-328. http://dx.doi.org/10.1002/nbm.2851 - Beltran E, Shelton GD, Guo LT, et al. Dystrophindeficient muscular dystrophy in a norfolk terrier. J Small Anim Pract. 2015;56(5):351-354. http://dx.doi.org/10.1111/jsap.12292
- Brooke MH, Fenichel GM, Griggs RC, et al. Duchenne muscular dystrophy: Patterns of clinical progression and effects of supportive therapy. Neurology. 1989; 39(4):475-481. https://doi.org/10.1212/WNL.39.4.475
- Brussee V, Tardif F, Tremblay JP. Muscle fibers of mdx mice are more vulnerable to exercise than those of normal mice. Neuromuscul Disord. 1997; 7(8):487-492. https://doi.org/10.1016/S0960-8966(97)00115-6
- Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77-93. https://doi.org/10.1016/S1474-4422(09)70271-6
- Carr HY, Purcell EM. Effects of diffusion on free precession in nuclear magnetic resonance experiments. Phys Rev. 1954;94(3):630-638. https://doi.org/10.1103/PhysRev.94.630
- Dalkilic I, Kunkel LM. Muscular dystrophies: Genes to pathogenesis. Curr Opin Genet Dev. 2003;13 (3):231-238. https://doi.org/10.1016/S0959-437X(03)00048-0
- Deconinck N, Dan B. Pathophysiology of duchenne muscular dystrophy: Current hypotheses. Pediatr Neurol. 2007;36(1):1-7. https://doi.org/10.1016/j.pediatrneurol.2006.09.016
- Desguerre I, Christov C, Mayer M, et al. Clinical heterogeneity of duchenne muscular dystrophy (DMD): Definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One. 2009;4(2):e4347. http://dx.doi.org/10.1371/journal.pone.0004347
- Emery AE. Population frequencies of inherited neuromuscular diseases--a world survey. Neuromuscul Disord. 1991;1(1):19-29. https://doi.org/10.1016/0960-8966(91)90039-U
- Emery AE. Muscular dystrophy into the new millennium. Neuromuscul Disord. 2002a;12(4): 343-349. https://doi.org/10.1016/S0960-8966(01)00303-0
- Emery AE. The muscular dystrophies. Lancet. 2002b; 359(9307):687-695. https://doi.org/10.1016/S0140-6736(02)07815-7
- Felber S, Skladal D, Wyss M, et al. Oral creatine supplementation in duchenne muscular dystrophy: A clinical and 31P magnetic resonance spectroscopy study. Neurol Res. 2000;22(2): 145-150. https://doi.org/10.1080/01616412.2000.11741051
- Fleckenstein JL, Bertocci LA, Nunnally RL, et al. 1989 ARRS executive council award. Exercise-enhanced MR imaging of variations in forearm muscle anatomy and use: Importance in MR spectroscopy. AJR Am J Roentgenol. 1989;153(4): 693-698. https://doi.org/10.2214/ajr.153.4.693
- Fokkema IF, den Dunnen JT, Taschner PE. LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat. 2005;26(2):63-68. https://doi.org/10.1002/humu.20201
- Forbes SC, Willcocks RJ, Triplett WT, et al. Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with duchenne muscular dystrophy: A multicenter cross sectional study. PLoS One. 2014; 9(9):e106435. http://dx.doi.org/10.1371/journal.pone.0106435
- Fraser LK, Childs AM, Miller M, et al. A cohort study of children and young people with progressive neuromuscular disorders: Clinical and demographic profiles and changing patterns of referral for palliative care. Palliat Med. 2012; 26(7):924-929. https://doi.org/10.1177/0269216311419989
-
Garrood P, Hollingsworth KG, Eagle M, et al. MR imaging in duchenne muscular dystrophy: Quantification of
$T_1$ -weighted signal, contrast uptake, and the effects of exercise. J Magn Reson Imaging. 2009;30(5):1130-1138. http://dx.doi.org/10.1002/jmri.21941 - Goodpaster BH, Kelley DE, Thaete FL, et al. Skeletal muscle attenuation determined by computed tomography is associated with skeletal muscle lipid content. J Appl Physiol (1985). 2000;89(1): 104-110. https://doi.org/10.1152/jappl.2000.89.1.104
- Goodpaster BH, Stenger VA, Boada F, et al. Skeletal muscle lipid concentration quantified by magnetic resonance imaging. Am J Clin Nutr. 2004; 79(5):748-754. https://doi.org/10.1093/ajcn/79.5.748
- Grindrod S, Tofts P, Edwards R. Investigation of human skeletal muscle structure and composition by x-ray computerised tomography. Eur J Clin Invest. 1983;13(6):465-468. https://doi.org/10.1111/j.1365-2362.1983.tb00130.x
- Heckmatt JZ, Dubowitz V. Detecting the duchenne carrier by ultrasound and computerized tomography. Lancet. 1983;2(8363):1364.
- Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature. 1992;355(6362):696-702. https://doi.org/10.1038/355696a0
- Jones DA, Round JM, Edwards RH, et al. Size and composition of the calf and quadriceps muscles in duchenne muscular dystrophy. A tomographic and histochemical study. J Neurol Sci. 1983; 60(2):307-322. https://doi.org/10.1016/0022-510X(83)90071-0
- Kim HK, Laor T, Horn PS, et al. T2 mapping in duchenne muscular dystrophy: Distribution of disease activity and correlation with clinical assessments. Radiology. 2010;255(3):899-908. http://dx.doi.org/10.1148/radiol.10091547
- Lamminen AE. Magnetic resonance imaging of primary skeletal muscle diseases: Patterns of distribution and severity of involvement. Br J Radiol. 1990;63(756):946-950. https://doi.org/10.1259/0007-1285-63-756-946
- Liu M, Chino N, Ishihara T. Muscle damage progression in duchenne muscular dystrophy evaluated by a new quantitative computed tomography method. Arch Phys Med Rehabil. 1993; 74(5):507-514. https://doi.org/10.1016/0003-9993(93)90115-Q
- Lott DJ, Forbes SC, Mathur S, et al. Assessment of intramuscular lipid and metabolites of the lower leg using magnetic resonance spectroscopy in boys with duchenne muscular dystrophy. Neuromuscul Disord. 2014;24(7):574-582. http://dx.doi.org/10.1016/j.nmd.2014.03.013
- Lovering RM, Brooks SV. Eccentric exercise in aging and diseased skeletal muscle: Good or bad? J Appl Physiol (1985). 2014;116(11):1439-1445. http://dx.doi.org/10.1152/japplphysiol.00174
- Lovering RM, Porter NC, Bloch RJ. The muscular dystrophies: From genes to therapies. Phys Ther. 2005;85(12):1372-1388.
- Marden FA, Connolly AM, Siegel MJ, et al. Compositional analysis of muscle in boys with duchenne muscular dystrophy using MR imaging. Skeletal Radiol. 2005;34(3):140-148. https://doi.org/10.1007/s00256-004-0825-3
- Mathur S, Lott DJ, Senesac C, et al. Age-related differences in lower-limb muscle cross-sectional area and torque production in boys with duchenne muscular dystrophy. Arch Phys Med Rehabil. 2010;91(7):1051-1058. http://dx.doi.org/10.1016/j.apmr.2010.03.024
-
Mathur S, Vohra RS, Germain SA, et al. Changes in muscle
$T_2$ and tissue damage after downhill running in mdx mice. Muscle Nerve. 2011;43(6): 878-886. http://dx.doi.org/10.1002/mus.21986 - Matsumura K, Nakano I, Fukuda N, et al. Proton spin-lattice relaxation time of duchenne dystrophy skeletal muscle by magnetic resonance imaging. Muscle Nerve. 1988;11(2):97-102. https://doi.org/10.1002/mus.880110202
- Maunder-Sewry CA, Gorodetsky R, Yarom R, et al. Element analysis of skeletal muscle in duchenne muscular dystrophy using x-ray fluorescence spectrometry. Muscle Nerve. 1980;3(6):502-508. https://doi.org/10.1002/mus.880030607
- McKinnis LN. Fundamentals of Musculoskeletal Imaging. 4th ed. Philadelphia, PA, F.A. Davis Co., 2013:10.
- Mendell JR, Shilling C, Leslie ND, et al. Evidence-based path to newborn screening for duchenne muscular dystrophy. Ann Neurol. 2012; 71(3):304-313. http://dx.doi.org/10.1002/ana.23528
- Mizuno Y, Yoshida M, Nonaka I, et al. Expression of utrophin (dystrophin-related protein) and dystrophin-associated glycoproteins in muscles from patients with duchenne muscular dystrophy. Muscle Nerve. 1994;17(2):206-216. https://doi.org/10.1002/mus.880170212
- Moens P, Baatsen PH, Marechal G. Increased susceptibility of EDL muscles from mdx mice to damage induced by contractions with stretch. J Muscle Res Cell Motil. 1993;14(4):446-451. https://doi.org/10.1007/BF00121296
- Moxley RT 3rd, Pandya S, Ciafaloni E, et al. Change in natural history of duchenne muscular dystrophy with long-term corticosteroid treatment: Implications for management. J Child Neurol. 2010;25(9):1116-1129. http://dx.doi.org/10.1177/0883073810371004
- Ohlendieck K, Matsumura K, Ionasescu VV, et al. Duchenne muscular dystrophy: Deficiency of dystrophin-associated proteins in the sarcolemma. Neurology. 1993;43(4):795-800. https://doi.org/10.1212/WNL.43.4.795
- Ozawa E, Nishino I, Nonaka I. Sarcolemmopathy: Muscular dystrophies with cell membrane defects. Brain Pathol. 2001;11(2):218-230.
- Pardo AC, Do T, Ryder T, et al. Combination of steroids and ischial weight-bearing knee ankle foot orthoses in duchenne's muscular dystrophy prolongs ambulation past 20 years of age--a case report. Neuromuscul Disord. 2011;21(11): 800-802. http://dx.doi.org/10.1016/j.nmd.2011.06.006
- Petrof BJ, Shrager JB, Stedman HH, et al. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci U S A. 1993;90(8):3710-3714. https://doi.org/10.1073/pnas.90.8.3710
- Rybakova IN, Amann KJ, Ervasti JM. A new model for the interaction of dystrophin with f-actin. J Cell Biol. 1996;135(3):661-672. https://doi.org/10.1083/jcb.135.3.661
- Sharma U, Atri S, Sharma MC, et al. Skeletal muscle metabolism in duchenne muscular dystrophy (DMD): An in-vitro proton NMR spectroscopy study. Magn Reson Imaging. 2003;21(2):145-153. https://doi.org/10.1016/S0730-725X(02)00646-X
- Shellock FG, Fukunaga T, Mink JH, et al. Exertional muscle injury: Evaluation of concentric versus eccentric actions with serial MR imaging. Radiology. 1991;179(3):659-664. https://doi.org/10.1148/radiology.179.3.2027970
- Sutherland-Smith AJ, Moores CA, Norwood FL, et al. An atomic model for actin binding by the CH domains and spectrin-repeat modules of utrophin and dystrophin. J Mol Biol. 2003;329(1): 15-33. https://doi.org/10.1016/S0022-2836(03)00422-4
- Tasca G, Pescatori M, Monforte M, et al. Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. PloS One. 2012;7(6):e38779. http://dx.doi.org/10.1371/journal.pone.0038779
- Termote JL, Baert A, Crolla D, et al. Computed tomography of the normal and pathologic muscular system. Radiology. 1980;137(2):439-444. https://doi.org/10.1148/radiology.137.2.7433677
- Torriani M, Townsend E, Thomas BJ, et al. Lower leg muscle involvement in duchenne muscular dystrophy: An MR imaging and spectroscopy study. Skeletal Radiol. 2012;41(4):437-445. http://dx.doi.org/10.1007/s00256-011-1240-1
- Wokke BH, van den Bergen JC, Versluis MJ, et al. Quantitative MRI and strength measurements in the assessment of muscle quality in duchenne muscular dystrophy. Neuromuscul Disord. 2014; 24(5):409-416. http://dx.doi.org/10.1016/j.nmd.2014.01.015