duchenne muscular dystrophy

Summary

Summary: An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Top Publications

  1. Greco S, De Simone M, Colussi C, Zaccagnini G, Fasanaro P, Pescatori M, et al. Common micro-RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia. FASEB J. 2009;23:3335-46 pubmed publisher
    ..Eleven miRNAs were deregulated both in MDX mice and in Duchenne muscular dystrophy patients (DMD signature)...
  2. Marotta M, Ruiz Roig C, Sarria Y, Peiro J, Nuñez F, Ceron J, et al. Muscle genome-wide expression profiling during disease evolution in mdx mice. Physiol Genomics. 2009;37:119-32 pubmed publisher
    ..Candidate genes may participate in the decline of muscle necrosis in mdx mice and could be considered potential therapeutic targets for Duchenne patients...
  3. Banks G, Chamberlain J. The value of mammalian models for duchenne muscular dystrophy in developing therapeutic strategies. Curr Top Dev Biol. 2008;84:431-53 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy. There is no effective treatment and patients typically die in approximately the third decade...
  4. Miyazaki D, Yoshida K, Fukushima K, Nakamura A, Suzuki K, Sato T, et al. Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. J Hum Genet. 2009;54:127-30 pubmed publisher
    Deletion of exons 45-55 (del45-55) in the Duchenne muscular dystrophy gene (DMD) has gained particular interest in the field of molecular therapy, because it causes a milder phenotype than DMD, and therefore, may represent a good ..
  5. Ihmsen H, Viethen V, Forst J, Schwilden H, Schmitt H, Muenster T. Pharmacodynamic modelling of rocuronium in adolescents with Duchenne muscular dystrophy. Eur J Anaesthesiol. 2009;26:105-10 pubmed
    Studies with rocuronium showed a delayed onset and prolonged recovery in patients with Duchenne muscular dystrophy (DMD). The objective of this study was to identify the pharmacokinetic and/or pharmacodynamic origin of these alterations.
  6. Aartsma Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen G, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat. 2009;30:293-9 pubmed publisher
    ..exon skipping aiming for reading frame restoration is currently a promising therapeutic application for Duchenne muscular dystrophy (DMD)...
  7. Yokota T, Lu Q, Partridge T, Kobayashi M, Nakamura A, Takeda S, et al. Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol. 2009;65:667-76 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is caused by the inability to produce dystrophin protein at the myofiber membrane...
  8. Kazuki Y, Hiratsuka M, Takiguchi M, Osaki M, Kajitani N, Hoshiya H, et al. Complete genetic correction of ips cells from Duchenne muscular dystrophy. Mol Ther. 2010;18:386-93 pubmed publisher
    ..of concept, we show herein the complete correction of a genetic deficiency in iPS cells derived from Duchenne muscular dystrophy (DMD) model (mdx) mice and a human DMD patient using a HAC with a complete genomic dystrophin sequence (..
  9. Wagner K. Approaching a new age in Duchenne muscular dystrophy treatment. Neurotherapeutics. 2008;5:583-91 pubmed publisher
    b>Duchenne muscular dystrophy is the most common and severe form of muscular dystrophy...

Scientific Experts

More Information

Publications62

  1. Kawamichi Y, Cui C, Toyoda M, Makino H, Horie A, Takahashi Y, et al. Cells of extraembryonic mesodermal origin confer human dystrophin in the mdx model of Duchenne muscular dystrophy. J Cell Physiol. 2010;223:695-702 pubmed publisher
    b>Duchenne muscular dystrophy is an X-linked recessive genetic disease characterized by severe skeletal muscular degeneration...
  2. Evans N, Misyak S, Robertson J, Bassaganya Riera J, Grange R. Immune-mediated mechanisms potentially regulate the disease time-course of duchenne muscular dystrophy and provide targets for therapeutic intervention. PM R. 2009;1:755-68 pubmed publisher
    b>Duchenne muscular dystrophy is a lethal muscle-wasting disease that affects boys. Mutations in the dystrophin gene result in the absence of the dystrophin glycoprotein complex (DGC) from muscle plasma membranes...
  3. Hendriksen J, Poysky J, Schrans D, Schouten E, Aldenkamp A, Vles J. Psychosocial adjustment in males with Duchenne muscular dystrophy: psychometric properties and clinical utility of a parent-report questionnaire. J Pediatr Psychol. 2009;34:69-78 pubmed publisher
    ..aim of this study was to establish the psychometric properties and clinical utility of the Personal Adjustment and Role Skills Scale (PARS-III) for assessing psychosocial adjustment in males with Duchenne muscular dystrophy (DMD).
  4. Madden H, Fletcher S, Davis M, Wilton S. Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping. Hum Mutat. 2009;30:22-8 pubmed publisher
    Out of three mutations in the dystrophin gene that cause Duchenne muscular dystrophy (DMD), the most common, serious childhood muscle wasting disease, two are genomic deletions of one or more exons that disrupt the reading frame...
  5. Wang Q, Yin H, Camelliti P, Betts C, Moulton H, Lee H, et al. In vitro evaluation of novel antisense oligonucleotides is predictive of in vivo exon skipping activity for Duchenne muscular dystrophy. J Gene Med. 2010;12:354-64 pubmed publisher
    ..b>Duchenne muscular dystrophy (DMD) arises as a result of mutations that interrupt the open-reading frame in the DMD gene encoding ..
  6. Nakamura A, Takeda S. Exon-skipping therapy for Duchenne muscular dystrophy. Neuropathology. 2009;29:494-501 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is a lethal muscle disorder caused by mutations in the DMD gene for which no mutation-targeted therapy has been available thus far...
  7. Hodges L, Dibb B. Social comparison within self-help groups: views of parents of children with Duchenne muscular dystrophy. J Health Psychol. 2010;15:483-92 pubmed publisher
    ..The results highlighted the complexity of socially comparing within the context of chronic illness, particularly in an illness in which deterioration is inevitable...
  8. Morine K, Bish L, Selsby J, Gazzara J, Pendrak K, Sleeper M, et al. Activin IIB receptor blockade attenuates dystrophic pathology in a mouse model of Duchenne muscular dystrophy. Muscle Nerve. 2010;42:722-30 pubmed publisher
    ..No effect on heart mass or function was observed. Our results indicate that activin IIB receptor blockade represents a novel and effective therapeutic strategy for the muscular dystrophies...
  9. Davidson Z, Truby H. A review of nutrition in Duchenne muscular dystrophy. J Hum Nutr Diet. 2009;22:383-93 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is a recessive X linked genetic disorder characterised by progressive muscle weakness and reduced muscle tone. Affecting only boys, it limits life expectancy to approximately 20 years...
  10. Lo Mauro A, D Angelo M, Romei M, Motta F, Colombo D, Comi G, et al. Abdominal volume contribution to tidal volume as an early indicator of respiratory impairment in Duchenne muscular dystrophy. Eur Respir J. 2010;35:1118-25 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is characterised by progressive loss of muscular strength that leads to an increasingly restrictive pulmonary syndrome...
  11. Fayssoil A, Nardi O, Orlikowski D, Annane D. Cardiomyopathy in Duchenne muscular dystrophy: pathogenesis and therapeutics. Heart Fail Rev. 2010;15:103-7 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by the absence of dystrophin, a sarcolemmal protein which links the cytoskeleton to the extracellular matrix by interacting with a large number of proteins...
  12. Modi H, Suh S, Hong J, Cho J, Park J, Yang J. Treatment and complications in flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy) with posterior-only pedicle screw instrumentation. Eur Spine J. 2010;19:384-93 pubmed publisher
    ..a retrospective study was carried out in 27 consecutive patients with flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy), who were operated between 2002 and 2006 using posterior-only pedicle ..
  13. Pilgram G, Potikanond S, Baines R, Fradkin L, Noordermeer J. The roles of the dystrophin-associated glycoprotein complex at the synapse. Mol Neurobiol. 2010;41:1-21 pubmed publisher
    b>Duchenne muscular dystrophy is caused by mutations in the dystrophin gene and is characterized by progressive muscle wasting. A number of Duchenne patients also present with mental retardation...
  14. Grounds M. Two-tiered hypotheses for Duchenne muscular dystrophy. Cell Mol Life Sci. 2008;65:1621-5 pubmed publisher
    New approaches to understanding and designing treatments for Duchenne muscular dystrophy (DMD) may emerge from two hypotheses outlined here...
  15. Dooley J, Gordon K, Dodds L, MacSween J. Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatr (Phila). 2010;49:177-9 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is among the most common lethal genetic diseases. It has been proposed that genetic counseling and prenatal diagnosis have begun to lower the incidence...
  16. Ahmad N, Bygrave M, De Zordo T, Fenster A, Lee T. Detecting degenerative changes in myotonic murine models of Duchenne muscular dystrophy using high-frequency ultrasound. J Ultrasound Med. 2010;29:367-75 pubmed
    ..imaging is an economical and noninvasive technique for studying musculoskeletal diseases such as Duchenne muscular dystrophy (DMD). Duchenne muscular dystrophy results from the loss of the cytoskeletal protein dystrophin...
  17. Arechavala Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, et al. Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord. 2010;20:295-301 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces...
  18. Adamo C, Dai D, Percival J, Minami E, Willis M, Patrucco E, et al. Sildenafil reverses cardiac dysfunction in the mdx mouse model of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2010;107:19079-83 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is a progressive and fatal genetic disorder of muscle degeneration. Patients with DMD lack expression of the protein dystrophin as a result of mutations in the X-linked dystrophin gene...
  19. Vandenburgh H, Shansky J, Benesch Lee F, Skelly K, Spinazzola J, Saponjian Y, et al. Automated drug screening with contractile muscle tissue engineered from dystrophic myoblasts. FASEB J. 2009;23:3325-34 pubmed publisher
    Identification of factors that improve muscle function in boys with Duchenne muscular dystrophy (DMD) could lead to an improved quality of life...
  20. Straathof C, Overweg Plandsoen W, van den Burg G, van der Kooi A, Verschuuren J, de Groot I. Prednisone 10 days on/10 days off in patients with Duchenne muscular dystrophy. J Neurol. 2009;256:768-73 pubmed publisher
    Corticosteroids are effective in improving motor function in Duchenne muscular dystrophy (DMD) patients within 6 months-2 years of treatment initiation, but there is as yet no consensus on which treatment scheme is the best...
  21. van Ommen G, van Deutekom J, Aartsma Rus A. The therapeutic potential of antisense-mediated exon skipping. Curr Opin Mol Ther. 2008;10:140-9 pubmed
    ..Antisense-mediated reading frame restoration is the most promising therapy for Duchenne muscular dystrophy. Data from a first clinical trial are encouraging and additional trials are ongoing or are expected to ..
  22. D Angelo M, Berti M, Piccinini L, Romei M, Guglieri M, Bonato S, et al. Gait pattern in Duchenne muscular dystrophy. Gait Posture. 2009;29:36-41 pubmed publisher
    We investigated the gait pattern of 21 patients with Duchenne muscular dystrophy (DMD), compared to 10 healthy controls through 3D Gait Analysis...
  23. Botteron S, Verdebout C, Jeannet P, Kiliaridis S. Orofacial dysfunction in Duchenne muscular dystrophy. Arch Oral Biol. 2009;54:26-31 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) affects orofacial function...
  24. Goyenvalle A, Babbs A, van Ommen G, Garcia L, Davies K. Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy. Mol Ther. 2009;17:1234-40 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disorder caused by mutations in the dystrophin gene. In most cases, the open-reading frame is disrupted which results in the absence of functional protein...
  25. Lim L, Rando T. Technology insight: therapy for Duchenne muscular dystrophy-an opportunity for personalized medicine?. Nat Clin Pract Neurol. 2008;4:149-58 pubmed publisher
    ..This mutation-focused approach offers the opportunity for 'personalized' gene therapy for muscular dystrophy and might also be a logical strategy for the treatment of other genetic disorders...
  26. Baban D, Davies K. Microarray analysis of mdx mice expressing high levels of utrophin: therapeutic implications for dystrophin deficiency. Neuromuscul Disord. 2008;18:239-47 pubmed publisher
    b>Duchenne Muscular Dystrophy (DMD) is a fatal muscle wasting disorder caused by dystrophin deficiency...
  27. Guerron A, Rawat R, Sali A, Spurney C, Pistilli E, Cha H, et al. Functional and molecular effects of arginine butyrate and prednisone on muscle and heart in the mdx mouse model of Duchenne Muscular Dystrophy. PLoS ONE. 2010;5:e11220 pubmed publisher
    The number of promising therapeutic interventions for Duchenne Muscular Dystrophy (DMD) is increasing rapidly...
  28. Kang P, Lidov H, White A, Mitchell M, Balasubramanian A, Estrella E, et al. Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve. 2010;41:746-50 pubmed publisher
    ..The CGD was cured after the second transplantation, but 2.5 years later he was diagnosed with Duchenne muscular dystrophy (DMD)...
  29. Plumridge G, Metcalfe A, Coad J, Gill P. Family communication about genetic risk information: particular issues for Duchenne muscular dystrophy. Am J Med Genet A. 2010;152A:1225-32 pubmed publisher
    ..associated care needs and emotional reactions it can be particularly stressful in families affected by Duchenne muscular dystrophy (DMD)...
  30. Grounds M, Radley H, Lynch G, Nagaraju K, De Luca A. Towards developing standard operating procedures for pre-clinical testing in the mdx mouse model of Duchenne muscular dystrophy. Neurobiol Dis. 2008;31:1-19 pubmed publisher
    ..when developing standard operating procedures for pre-clinical studies in the mdx mouse model of Duchenne muscular dystrophy (DMD)...
  31. Yilmaz A, Gdynia H, Baccouche H, Mahrholdt H, Meinhardt G, Basso C, et al. Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach. J Cardiovasc Magn Reson. 2008;10:50 pubmed publisher
    ..Cardiovascular magnetic resonance (CMR) has the potential to detect cardiac involvement by depicting early scar formation that may appear before onset of wall motion abnormalities...
  32. Miura P, Chakkalakal J, Boudreault L, Belanger G, Hébert R, Renaud J, et al. Pharmacological activation of PPARbeta/delta stimulates utrophin A expression in skeletal muscle fibers and restores sarcolemmal integrity in mature mdx mice. Hum Mol Genet. 2009;18:4640-9 pubmed publisher
    A therapeutic strategy to treat Duchenne muscular dystrophy (DMD) involves identifying compounds that can elevate utrophin A expression in muscle fibers of affected patients...
  33. Ichim T, Alexandrescu D, Solano F, Lara F, Campion R, Paris E, et al. Mesenchymal stem cells as anti-inflammatories: implications for treatment of Duchenne muscular dystrophy. Cell Immunol. 2010;260:75-82 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is a lethal X-linked musculodegenerative condition consisting of an underlying genetic defect whose manifestation is augmented by inflammatory mechanisms...
  34. Desguerre I, Christov C, Mayer M, Zeller R, Becane H, Bastuji Garin S, 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:e4347 pubmed publisher
    To explore clinical heterogeneity of Duchenne muscular dystrophy (DMD), viewed as a major obstacle to the interpretation of therapeutic trials
  35. Heemskerk H, De Winter C, van Ommen G, van Deutekom J, Aartsma Rus A. Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy. Ann N Y Acad Sci. 2009;1175:71-9 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disease caused by frame shifting and nonsense mutations in the dystrophin gene. Through skipping of an (additional) exon from the pre-mRNA, the reading frame can be restored...
  36. Srour M, Bejjani B, Rorem E, Hall N, Shaffer L, Shevell M. An instructive case of an 8-year-old boy with intellectual disability. Semin Pediatr Neurol. 2008;15:154-5; discussion 155-6 pubmed publisher
  37. Colussi C, Mozzetta C, Gurtner A, Illi B, Rosati J, Straino S, et al. HDAC2 blockade by nitric oxide and histone deacetylase inhibitors reveals a common target in Duchenne muscular dystrophy treatment. Proc Natl Acad Sci U S A. 2008;105:19183-7 pubmed publisher
    ..These data reveal a special contribution of HDAC2 in the pathogenesis of Duchenne muscular dystrophy and indicate that HDAC2 inhibition by NO-dependent S-nitrosylation is important for the therapeutic ..
  38. Pehler S, Craft Rosenberg M. Longing: the lived experience of spirituality in adolescents with Duchenne muscular dystrophy. J Pediatr Nurs. 2009;24:481-94 pubmed publisher
    ..phenomenological study was to describe the lived experiences of spirituality in adolescents with Duchenne muscular dystrophy using van Manen's phenomenological method...
  39. McDonald C, Henricson E, Han J, Abresch R, Nicorici A, Elfring G, et al. The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve. 2010;41:500-10 pubmed publisher
    Walking abnormalities are prominent in Duchenne muscular dystrophy (DMD)...
  40. Davis S, Hynan L, Limbers C, Andersen C, Greene M, Varni J, et al. The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales. J Clin Neuromuscul Dis. 2010;11:97-109 pubmed publisher
    ..0 Neuromuscular Module (NMM) in assessing health-related quality of life in the Duchenne muscular dystrophy (DMD) population for use as a secondary outcome measure in phase III clinical trials.
  41. Qin W, Yim O, Lai P, Yung L. Dimeric gold nanoparticle assembly for detection and discrimination of single nucleotide mutation in Duchenne muscular dystrophy. Biosens Bioelectron. 2010;25:2021-5 pubmed publisher
    ..We used this assay for genotyping mutations in the Duchenne muscular dystrophy (DMD) gene, the largest known in the human genome...
  42. Thrush P, Allen H, Viollet L, Mendell J. Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. Am J Cardiol. 2009;103:262-5 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) results in dilated cardiomyopathy (DC)...
  43. McNeil D, Davis C, Jillapalli D, Targum S, Durmowicz A, Cote T. Duchenne muscular dystrophy: Drug development and regulatory considerations. Muscle Nerve. 2010;41:740-5 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is one of the most commonly recognized dystrophinopathies...
  44. Nelson S, Crosbie R, Miceli M, Spencer M. Emerging genetic therapies to treat Duchenne muscular dystrophy. Curr Opin Neurol. 2009;22:532-8 pubmed publisher
    b>Duchenne muscular dystrophy is a progressive muscle degenerative disease caused by dystrophin mutations...
  45. Markham L, Kinnett K, Wong B, Woodrow Benson D, Cripe L. Corticosteroid treatment retards development of ventricular dysfunction in Duchenne muscular dystrophy. Neuromuscul Disord. 2008;18:365-70 pubmed publisher
    b>Duchenne muscular dystrophy (DMD) is characterized by a predictable decline in cardiac function with age that contributes to early death...
  46. Gayraud J, Ramonatxo M, Rivier F, Humberclaude V, Petrof B, Matecki S. Ventilatory parameters and maximal respiratory pressure changes with age in Duchenne muscular dystrophy patients. Pediatr Pulmonol. 2010;45:552-9 pubmed publisher
    The aim of this longitudinal study was to precise, in children with Duchenne muscular dystrophy, the respective functional interest of ventilatory parameters (Vital capacity, total lung capacity and forced expiratory volume in one second ..
  47. Evans N, Misyak S, Robertson J, Bassaganya Riera J, Grange R. Dysregulated intracellular signaling and inflammatory gene expression during initial disease onset in Duchenne muscular dystrophy. Am J Phys Med Rehabil. 2009;88:502-22 pubmed publisher
    b>Duchenne muscular dystrophy is a debilitating genetic disorder characterized by severe muscle wasting and early death in affected boys...
  48. Garrood P, Hollingsworth K, Eagle M, Aribisala B, Birchall D, Bushby K, et al. MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise. J Magn Reson Imaging. 2009;30:1130-8 pubmed publisher
    To quantify the differences between normal and corticosteroid-treated Duchenne muscular dystrophy (DMD) lower limb muscle using signal intensity measurements on T(1)-weighted and gadolinium contrast-enhanced images and by measurement of ..
  49. Hagenbuch S, Gottliebson W, Wansapura J, Mazur W, Fleck R, Benson D, et al. Detection of progressive cardiac dysfunction by serial evaluation of circumferential strain in patients with Duchenne muscular dystrophy. Am J Cardiol. 2010;105:1451-5 pubmed publisher
    ..cardiac dysfunction using serial circumferential strain (epsilon(cc)) measurements in patients with Duchenne muscular dystrophy (DMD)...
  50. McMillan H, Campbell C, Mah J. Duchenne muscular dystrophy: Canadian paediatric neuromuscular physicians survey. Can J Neurol Sci. 2010;37:195-205 pubmed
    b>Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in childhood.
  51. Rajakulendran S, Kuntzer T, Dunand M, Yau S, Ashton E, Storey H, et al. Marked hemiatrophy in carriers of Duchenne muscular dystrophy. Arch Neurol. 2010;67:497-500 pubmed publisher
    To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy...
  52. Brito M, Moreira G, Pradella Hallinan M, Tufik S. Air stacking and chest compression increase peak cough flow in patients with Duchenne muscular dystrophy. J Bras Pneumol. 2009;35:973-9 pubmed
    ..To evaluate cough efficiency using two manually-assisted cough techniques...
  53. Taylor P, Betts G, Maroulis S, Gilissen C, Pedersen R, Mowat D, et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS ONE. 2010;5:e8803 pubmed publisher
    A significant component of the variation in cognitive disability that is observed in Duchenne muscular dystrophy (DMD) is known to be under genetic regulation...