muscular diseases

Summary

Summary: Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.

Top Publications

  1. Tak W, Park S, Cho C, Jung M, Jeon S, Kweon Y, et al. Clinical, biochemical, and pathological characteristics of clevudine-associated myopathy. J Hepatol. 2010;53:261-6 pubmed publisher
    ..The aim of this study was to define the clinical, biochemical, and pathological characteristics of myopathy developed during clevudine therapy...
  2. Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain. 2012;135:1682-94 pubmed publisher
    ..The typical histopathological features with prominent myofibrillar lesions and inclusions in muscle and respiratory failure early in the clinical course should be incentives for analysis of TTN mutations...
  3. Kelemen Valkony I, Kiss M, Csiha J, Kiss A, Bircher U, Szidonya J, et al. Drosophila basement membrane collagen col4a1 mutations cause severe myopathy. Matrix Biol. 2012;31:29-37 pubmed publisher
    ..In conclusion, our Drosophila mutant series may serve as an effective model to uncover the mechanisms by which COL4A1 mutations result in compromised myofiber-basement membrane interactions and aberrant muscle function...
  4. Santos P, Soares R, Nascimento R, Machado Coelho G, Mill J, Krieger J, et al. SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group. BMC Med Genet. 2011;12:136 pubmed publisher
    ..In the scenario of the Brazilian population, being one of the most heterogeneous in the world, the main aim here was to evaluate SLCO1B1 polymorphisms according to ethnic groups as an initial step for future pharmacogenetic studies...
  5. Labelle Dumais C, Dilworth D, Harrington E, de Leau M, Lyons D, Kabaeva Z, et al. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011;7:e1002062 pubmed publisher
    ..These findings implicate a novel gene and a novel mechanism in the etiology of MEB/WWS and expand the clinical spectrum of COL4A1-associated disorders...
  6. Parker B, Thompson P. Effect of statins on skeletal muscle: exercise, myopathy, and muscle outcomes. Exerc Sport Sci Rev. 2012;40:188-94 pubmed
    ..The interaction between statins, exercise, and muscle symptoms may be more effectively diagnosed and treated as rigorous scientific studies accumulate...
  7. Ochala J, Iwamoto H, Larsson L, Yagi N. A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation. Proc Natl Acad Sci U S A. 2010;107:9807-12 pubmed publisher
  8. Dowling J, Arbogast S, Hur J, Nelson D, McEvoy A, Waugh T, et al. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain. 2012;135:1115-27 pubmed publisher
    ..We propose that N-acetylcysteine represents the first potential therapeutic strategy for these debilitating muscle diseases...
  9. Mackey A, Brandstetter S, Schjerling P, Bojsen Moller J, Qvortrup K, Pedersen M, et al. Sequenced response of extracellular matrix deadhesion and fibrotic regulators after muscle damage is involved in protection against future injury in human skeletal muscle. FASEB J. 2011;25:1943-59 pubmed publisher
    ..001). The findings indicate that the sequenced events of load-induced early deadhesion and later strengthening of skeletal muscle ECM play a role in protecting human muscle against future injury...

More Information

Publications62

  1. von Nandelstadh P, Soliymani R, Baumann M, Carpen O. Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. Biochem J. 2011;436:113-21 pubmed publisher
    ..The present study provides novel information on the pathways controlling myotilin turnover and on the molecular defects associated with MFM...
  2. Kim S, Kim S. Myonecrosis of paralumbar spine muscle. Spine (Phila Pa 1976). 2011;36:E1162-5 pubmed publisher
    ..A case report...
  3. Zaremba Czogalla M, Dubińska Magiera M, Rzepecki R. Laminopathies: the molecular background of the disease and the prospects for its treatment. Cell Mol Biol Lett. 2011;16:114-48 pubmed publisher
    ..In this review, we discuss the current state of knowledge about laminopathies, the molecular mechanisms behind the development of particular phenotypes, and the prospects for stem cell and/or gene therapy treatments...
  4. Cakir M, Bruno C, Cansu A, Cobanoglu U, Erduran E. Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. Acta Paediatr. 2010;99:1592-4 pubmed publisher
    ..Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin-Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease...
  5. Mitra S, Samanta M, Sarkar M, Chatterjee S. Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. Indian J Pathol Microbiol. 2010;53:799-801 pubmed publisher
    ..Dietary modifications were instituted and followed up after 1 year with promising results. This emphasizes the importance of neonatal screening for lipid vacuolations in peripheral blood in all cases of congenital ichthyosis...
  6. Z Graggen W, Brander L, Tuchscherer D, Scheidegger O, Takala J, Bostock H. Muscle membrane dysfunction in critical illness myopathy assessed by velocity recovery cycles. Clin Neurophysiol. 2011;122:834-41 pubmed publisher
    ..To test the hypothesis that muscle fibers are depolarized in patients with critical illness myopathy by measuring velocity recovery cycles (VRCs) of muscle action potentials...
  7. Tucci S, Flogel U, Sturm M, Borsch E, Spiekerkoetter U. Disrupted fat distribution and composition due to medium-chain triglycerides in mice with a ?-oxidation defect. Am J Clin Nutr. 2011;94:439-49 pubmed publisher
  8. RUANO G, Windemuth A, Wu A, Kane J, Malloy M, Pullinger C, et al. Mechanisms of statin-induced myalgia assessed by physiogenomic associations. Atherosclerosis. 2011;218:451-6 pubmed publisher
    ..We investigated genetic variants predictive of muscular side effects in patients treated with statins. We utilized a physiogenomic approach to prototype a multi-gene panel correlated with statin-induced myalgia...
  9. Tasca G, Mirabella M, Broccolini A, Monforte M, Sabatelli M, Biscione G, et al. An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation. Neuromuscul Disord. 2010;20:730-4 pubmed publisher
    ..The R279W mutation in the TTN gene was excluded. This report expands the geographical region of incidence and encourages additional studies to clarify the genetic heterogeneity of the condition...
  10. Versey N, Halson S, Dawson B. Effect of contrast water therapy duration on recovery of running performance. Int J Sports Physiol Perform. 2012;7:130-40 pubmed
    ..To investigate whether contrast water therapy (CWT) assists acute recovery from high-intensity running and whether a dose-response relationship exists...
  11. Brinas L, Richard P, Quijano Roy S, Gartioux C, Ledeuil C, Lacene E, et al. Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol. 2010;68:511-20 pubmed publisher
    ..We extensively characterized, at the clinical, cellular, and molecular levels, 49 patients with onset in the first 2 years of life to investigate genotype-phenotype correlations...
  12. Abdellaoui A, Prefaut C, Gouzi F, Couillard A, Coisy Quivy M, Hugon G, et al. Skeletal muscle effects of electrostimulation after COPD exacerbation: a pilot study. Eur Respir J. 2011;38:781-8 pubmed publisher
    ..Finally, we observed a significant increase in type I fibre proportion in the NMES group. Our study shows that following COPD exacerbation, NMES is effective in counteracting muscle dysfunction and decreases muscle oxidative stress...
  13. Bleakley C, McDonough S, Gardner E, Baxter G, Hopkins J, Davison G. Cold-water immersion (cryotherapy) for preventing and treating muscle soreness after exercise. Cochrane Database Syst Rev. 2012;:CD008262 pubmed publisher
    ..Cold-water immersion, in water temperatures of less than 15°C, is currently one of the most popular interventional strategies used after exercise...
  14. Weber Carstens S, Deja M, Koch S, Spranger J, Bubser F, Wernecke K, et al. Risk factors in critical illness myopathy during the early course of critical illness: a prospective observational study. Crit Care. 2010;14:R119 pubmed publisher
    ..Non-excitable muscle membrane indicates critical illness myopathy (CIM) during early critical illness. We investigated predisposing risk factors for non-excitable muscle membrane at onset of critical illness...
  15. Wilke R, Ramsey L, Johnson S, Maxwell W, McLeod H, Voora D, et al. The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy. Clin Pharmacol Ther. 2012;92:112-7 pubmed publisher
    ..This guideline explores the relationship between rs4149056 (c.521T>C, p.V174A) and clinical outcome for all statins. The strength of the evidence is high for myopathy with simvastatin. We limit our recommendations accordingly...
  16. Aggarwal S, Maras J, Alam S, Khanna R, Gupta S, Ahuja A. Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation. Eur J Med Genet. 2012;55:173-7 pubmed publisher
    ..Steatosis was minimal in liver biopsy specimens and all children had low vitamin D levels. Genotype-phenotype correlations have not been possible in Dorfman-Chanarin syndrome and the present report raises further challenges for the same...
  17. Ortolano S, Tarrio R, Blanco Arias P, Teijeira S, Rodriguez Trelles F, García Murias M, et al. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord. 2011;21:254-62 pubmed publisher
  18. Pfeffer G, Elliott H, Griffin H, Barresi R, Miller J, Marsh J, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain. 2012;135:1695-713 pubmed publisher
    ..With 363 exons, screening TTN presented a major challenge until recently. However, whole exome sequencing provides a reliable cost-effective approach, providing the gene of interest is adequately captured. ..
  19. Lewis A, Riddoch Contreras J, Natanek S, Donaldson A, Man W, Moxham J, et al. Downregulation of the serum response factor/miR-1 axis in the quadriceps of patients with COPD. Thorax. 2012;67:26-34 pubmed publisher
    ..The role of these factors in the skeletal muscle dysfunction that accompanies COPD is unknown...
  20. Tavian D, Missaglia S, Redaelli C, Pennisi E, Invernici G, Wessalowski R, et al. Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function. Hum Mol Genet. 2012;21:5318-28 pubmed publisher
    ..The patients of Italian origin show a late-onset and slowly progressive skeletal myopathy. These findings suggest that a small amount of correctly localized lipase activity preserves cardiac function in NLSD-M...
  21. Stalpers X, Verrips A, Braakhekke J, Lammens M, van den Wijngaard A, Mostert A. Scoliosis surgery in a patient with "de novo" myosin storage myopathy. Neuromuscul Disord. 2011;21:812-5 pubmed publisher
    ..We describe a patient with this uncommon myopathy, caused by a new p.K1784delK mutation in the MYH7 gene. The patient developed a severe thoracolumbar scoliosis and had scoliosis surgery...
  22. Bonnefont J, Bastin J, Laforet P, Aubey F, Mogenet A, Romano S, et al. Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency. Clin Pharmacol Ther. 2010;88:101-8 pubmed publisher
    ..The results suggest that BZ has a therapeutic effect in the muscular form of CPT2 deficiency...
  23. Logan C, Lucke B, Pottinger C, Abdelhamed Z, Parry D, Szymanska K, et al. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nat Genet. 2011;43:1189-92 pubmed publisher
  24. Parker B, Augeri A, Capizzi J, Ballard K, Troyanos C, Baggish A, et al. Effect of statins on creatine kinase levels before and after a marathon run. Am J Cardiol. 2012;109:282-7 pubmed publisher
    ..02 and r(2) = 0.00, respectively; p >0.42), suggesting that susceptibility to exercise-induced muscle injury with statins increases with age. In conclusion, our results show that statins increase exercise-related muscle injury...
  25. Kennedy S, Potter B, Wilson K, Fisher L, Geraghty M, Milburn J, et al. The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario. BMC Pediatr. 2010;10:82 pubmed publisher
    ..This study reports on the first three years of newborn screening for MCADD in Ontario, Canada...
  26. Grounds M, Shavlakadze T. Growing muscle has different sarcolemmal properties from adult muscle: a proposal with scientific and clinical implications: reasons to reassess skeletal muscle molecular dynamics, cellular responses and suitability of experimental models of muscle d. Bioessays. 2011;33:458-68 pubmed publisher
    ..The consequences of a dynamic, expanding sarcolemma during growth, compared with that of an adult myofibre of a fixed length, are discussed with respect to various aspects of muscle biology...
  27. Mackey A, Andersen L, Frandsen U, Suetta C, Sjøgaard G. Distribution of myogenic progenitor cells and myonuclei is altered in women with vs. those without chronically painful trapezius muscle. J Appl Physiol (1985). 2010;109:1920-9 pubmed publisher
    ..The findings of greater numbers of SCs in type I fibers of muscle subjected to repeated low-intensity work support our hypothesis and provide new insight into stimuli capable of regulating SC content...
  28. Redaelli C, Coleman R, Moro L, Dacou Voutetakis C, Elsayed S, Prati D, et al. Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet J Rare Dis. 2010;5:33 pubmed publisher
    ..The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system (CNS). Mutations in ABHD5/CGI58 gene are associated with CDS...
  29. Scoto M, Cirak S, Mein R, Feng L, Manzur A, Robb S, et al. SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology. 2011;76:2073-8 pubmed publisher
    ..To assess the clinical course and genotype-phenotype correlations in patients with selenoprotein-related myopathy (SEPN1-RM) due to selenoprotein N1 gene (SEPN1) mutations for a retrospective cross-sectional study...
  30. Rallidis L, Fountoulaki K, Anastasiou Nana M. Managing the underestimated risk of statin-associated myopathy. Int J Cardiol. 2012;159:169-76 pubmed publisher
  31. Fernandez G, Spatz E, Jablecki C, Phillips P. Statin myopathy: a common dilemma not reflected in clinical trials. Cleve Clin J Med. 2011;78:393-403 pubmed publisher
    ..We outline the differential diagnosis, the risks and benefits of statin therapy in patients with possible toxicity, and the subsequent treatment options...
  32. Folker E, Ostlund C, Luxton G, Worman H, Gundersen G. Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. Proc Natl Acad Sci U S A. 2011;108:131-6 pubmed publisher
    ..Nesprin-2G TAN lines also slipped in SUN2-depleted cells. Our results establish A-type lamins as anchors for nesprin-2G-SUN2 TAN lines to allow productive movement and proper positioning of the nucleus by actin...
  33. Brunham L, Lansberg P, Zhang L, Miao F, Carter C, Hovingh G, et al. Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin. Pharmacogenomics J. 2012;12:233-7 pubmed publisher
    ..Our findings provide further support for a role for SLCO1B1 genotype in simvastatin-associated myopathy, and suggest that this association may be stronger for simvastatin compared with atorvastatin...
  34. Selcen D, Engel A. Myofibrillar myopathies. Handb Clin Neurol. 2011;101:143-54 pubmed publisher
    ..To date, all MFM mutations have appeared in Z-disk-associated proteins: namely, desmin, ?B-crystallin, myotilin, ZASP, filamin C, and Bag3. However, in the majority of patients with MFM, the disease gene awaits discovery...
  35. Lee H, Daniels B, Salas E, Bollen A, Debnath J, Margeta M. Clinical utility of LC3 and p62 immunohistochemistry in diagnosis of drug-induced autophagic vacuolar myopathies: a case-control study. PLoS ONE. 2012;7:e36221 pubmed publisher
    ..The goal of the current study was to develop an immunohistochemical diagnostic marker for this pathologic entity...
  36. Ullrich N, Fischer D, Kornblum C, Walter M, Niggli E, Zorzato F, et al. Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Hum Mutat. 2011;32:309-17 pubmed publisher
  37. Abd T, Jacobson T. Statin-induced myopathy: a review and update. Expert Opin Drug Saf. 2011;10:373-87 pubmed publisher
    ..Observational studies estimate that 10 - 15% of statin users develop statin-related muscle side effects ranging from mild myalgia to more severe muscle symptoms with significant CPK elevations...
  38. Finsterer J, Ay L. Myotoxicity of telbivudine in pre-existing muscle damage. Virol J. 2010;7:323 pubmed publisher
    ..It is unknown if telbivudine causes muscle damage only in patients with pre-existing muscle pathology...
  39. Costa A, Di Primio G, Schweitzer M. Magnetic resonance imaging of muscle disease: a pattern-based approach. Muscle Nerve. 2012;46:465-81 pubmed publisher
    ..Such an approach allows one to systematically assess abnormal findings on muscle MRI studies and ascertain clues to the diagnosis or differential diagnosis, particularly when findings are correlated with the clinical context...
  40. Sathasivam S. Statin induced myotoxicity. Eur J Intern Med. 2012;23:317-24 pubmed publisher
    ..The management of statin induced myotoxicity involves statin cessation, the use of alternative lipid lowering agents or treatment regimes, and in the case of necrotizing autoimmune myopathy, immunosuppression...
  41. Samuelov L, Fuchs Telem D, Sarig O, Sprecher E. An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family. Br J Dermatol. 2011;164:1390-2 pubmed publisher
    ..Our results confirm genetic homogeneity in CDS and underscore the importance of RNA studies in the molecular diagnosis of genodermatoses...
  42. Harms M, Sommerville R, Allred P, Bell S, Ma D, Cooper P, et al. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol. 2012;71:407-16 pubmed publisher
    ..To identify the causative gene in an autosomal dominant limb-girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles...
  43. Kurapati R, McKenna C, Lindqvist J, Williams D, Simon M, Leproust E, et al. Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb. Hum Mol Genet. 2012;21:1706-24 pubmed publisher
    ..Recapitulation of the L342Q change in the functional equivalent of mouse MYH4 in human muscles, MYH1, results in a more aggregate-prone protein...
  44. Muelas N, Hackman P, Luque H, Suominen T, Espinos C, Garces Sanchez M, et al. Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients. Clin Genet. 2012;81:491-4 pubmed publisher
    ..Data estimation yields the origin of the mutation in the Safor at the beginning of the XVII century, when the Moorish were spelt and the region was resettled with Italian families...
  45. Novak P, Vidmar G, Kuret Z, Bizovičar N. Rehabilitation of critical illness polyneuropathy and myopathy patients: an observational study. Int J Rehabil Res. 2011;34:336-42 pubmed publisher
    ..Rehabilitation of such patients should start as early as possible once the diagnosis has been established. Comprehensive assessment of such patients combining established scales, objective clinical tests, and the ICF is recommended...
  46. Schessl J, Columbus A, Hu Y, Zou Y, Voit T, Goebel H, et al. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. Neuropediatrics. 2010;41:43-6 pubmed publisher
    ..We recently identified the four and a half LIM domain gene FHL1 located on chromosome Xq26 as the causative gene for RBM. So far eight familial cases and 21 sporadic patients with RBM have been reported in the literature...
  47. Shastry S, Delgado M, Dirik E, Turkmen M, Agarwal A, Garg A. Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. Am J Med Genet A. 2010;152A:2245-53 pubmed publisher
    ..It is unclear how mutations in PTRF, which plays an essential role in formation of caveolae, affect a wide variety of tissues resulting in a variable phenotype...
  48. Mackey A, Andersen L, Frandsen U, Sjøgaard G. Strength training increases the size of the satellite cell pool in type I and II fibres of chronically painful trapezius muscle in females. J Physiol. 2011;589:5503-15 pubmed publisher
    ..These findings provide strong support at the cellular level for the potential of SST to induce a strong myogenic response in this population...
  49. Latronico N, Bolton C. Critical illness polyneuropathy and myopathy: a major cause of muscle weakness and paralysis. Lancet Neurol. 2011;10:931-41 pubmed publisher
    ..Control of hyperglycaemia might reduce the severity of these complications of critical illness, and early rehabilitation in the intensive care unit might improve the functional recovery and independence of patients...
  50. Castets P, Bertrand A, Beuvin M, Ferry A, Le Grand F, Castets M, et al. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum Mol Genet. 2011;20:694-704 pubmed publisher
    ..In conclusion, we describe for the first time a major physiological function of SelN in skeletal muscles, as a key regulator of SC function, which likely plays a central role in the pathophysiological mechanism leading to SEPN1-RM...
  51. Duarte S, Oliveira J, Santos R, Pereira P, Barroso C, Conceição I, et al. Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. Muscle Nerve. 2011;44:102-8 pubmed publisher
    ..Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH)...
  52. Bönnemann C. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol. 2011;7:379-90 pubmed publisher
  53. Olivé M, Odgerel Z, Martínez A, Poza J, Bragado F, Zabalza R, et al. Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord. 2011;21:533-42 pubmed publisher