Kas Distrofileri ve Beslenme Yaklaşımları

Emery A.E. The muscular dystrophies. British Medical Journal. 1998;317(7164): 991-995.

Coral-Vazquez R et al. Distruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell. 1999;98:465-474.

Michele DE et al. Post-translational distruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417-422.

Esapa CT, Bentham GRB, Schröder JE, Stephan K, Blake DJ. The effects of posttranslational processing on dystroglycan synthesis and trafficking. FEBS Lett. 2003;555:209-216.

Sarnat H.B. (2004). Muscular dystrophies. In Berhman RE, Kliegman RM, Jenson HB, Eds. Nelson Textbook of Pediatrics, 17th ed. Saunders; 69-2060.

Coral-Vazquez R ve ark. Distruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell. 1999;98:465-474.

Michele DE ve ark. Post-translational distruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417-422.

Cohn RD, Campell KP. Molecular basis of muscular dystrophies. Muscle Nerve. 2000;23:1456-1471.

Department of Health and Human Services (2006). Report to Congress on Implementation of the Muscular Community Assistance, Research and Education Amendments of 2001. National Institutes of Health.

Mercuri E, Bönnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019;394 (10213):2025-2038. doi:10.1016/S0140-6736(19)32910-1

Mc Nally EM, Tovbin JA. Cardiomyopathy in Muscular Dystrophy Workshop (Workshop report). Neuromuscular Disorders. 2004;14:442-448.

Guglieri M, Magri F, D’Angelo MG, Prelle A, Morandi L, Rodolico C, et al. (2008). Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Human Mutation. 2008;29(2):258-266.

Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. (2009). Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132(Pt 11): 3175-3186.

Dincer, P. (2006) Consanguinity and Neuromuscular DIsorders in Turkey[Bildiri]. 11th International Congress on Neuromuscular Disease (ICNMD). Istanbul, Türkiye.

Nigro V. Molecular bases of autosomal recessive limb-girdle muscular dystrophies. Acta Myologica. 2003;22(2):35-42.

Hoffman EP, ve ark. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919-928.

Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev. 2002;82:291-329.

Bansal D, Campbell K. Dysferlin and the plasma membrane repair in muscle dystrophy. Trends Cell Biol. 2004;14:206-213.

Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Rosenbaum SM, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosemann H. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Brain. 2000;123:1229-1237.

Duggan DJ, Hoffmann EP. Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex. Neuromuscul Disord. 1996;6:475-482.

Lim LE, Duclos F, Allamand V ve ark. _-Sarcoglycan (43 DAG): characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12. Nat Genet. 1995;11:257-265.

Bönnemann CG, Modi R, Noguchi S ve ark. _-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 1995;11:266-273.

Jung D, Leturcq E, Sunada Y, Duclos F, Tome FM, Moomaw C, Merlini L, Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan JC, Campbell KP. Absence of gammasarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett.1996;381:15-20.

Kapoor S, Tatke M, Aggorwal S, Gupta A. Beta-sarcoglycanopathy. Indian J Pediatr 2005;72:71-74.

Sharma MC, Manan R, Singh NG, Gulati S, Karla V, Sarkar C. Sarcoglycanopathies: An enigmatic form of muscular dystrophy- A report of 7 cases. Neurology India. 2004;52:446-449.

Draviam RA, Wang B, Shand SH, Watkins SC. _-Sarcoglycan is recycled from the plasma membrane in the absence of sarcoglycan complex assembly. Traffic. 2006;7:793-810.

Ozawa E, Mizuno Y, Hagiwara Y, Sasaoka T, Yoshida M. Molecular and cell biology of the sarcoglycan complex. Muscle Nerve. 2005;32:563-576.

Roberts RG, Coffey AJ, Bobrow M, Bentley DR. Exon structure of the human dystrophin gene. Genomics 1993;16:536-538.

Kılıç Z. Nöromusküler Hastalıklarda Kardiak Etkilenme. T Klin J Ped Sp Iss. 2003;1:263 -267.

Bar S, Barnea E, Levy Z, Neuman S, Yaffe D, Nudel U. A novel product of the Duchenne muscular dystrophy gene which greatly differs from the isoforms in its structure and tissue distribution. Biochem J. 1990;272:557-560.

Koening M, Kunkel LM. Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem.1990;265:4560-4566.

Lapidos KA, Kakkar R, McNally EM. The dystrophin glycoprotein complex: signal strenght and ıntegrity for the sarcolemma. Circ Res. 2004;94:1023-1031.

Stradal T, Kranewitter W, Winder SJ, Gimona M. CH domains revisited. FEBS Lett. 1998;431:134-137.

Jung D, Yang B, Meyer J, Chamberlain JS, Campbell KP. Identification and characterization of the dystrophin anchoring site on _-dystroglycan. J Biol Chem. 1995;270:27305-27310.

Ishikawa-Sakurai M, Yoshida M, Imamura M, Davies KE, Ozawa E. ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to β-dystroglycan. Hum Mol Genet. 2004;13:693-702.

Dooley J, Gordon KE, Dodds L, MacSween J. Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatry (Phila). 2010;49(2):177-179. doi: 10.1177/ 0009922809347777.

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S. Diagnosis and Management of Duchenne Muscular Dystrophy, Part 1: Diagnosis, and Pharmacological and Psychosocial Management. The Lancet Neurology. 2010;9(1): 77-93.

Cohn RD, Campell KP. Molecular basis of muscular dystrophies. Muscle Nerve. 2000; 23:1456-1471.

Lisak RP, Truong D, Carroll WM, & Bhidayasiri, R. (2016). International neurology (Second edition). Wiley.

Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin related proteins in muscle. Physiol Rev. 2002;82:291-329.

Chaturvedi LS, Mkherjee M, Srivastava S, Mittal RD, Mittal B. Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients. Exp Mol Med. 2001;Dec 31-33.

Grady RM, Grange RW, Lau KS, Maimone MM, Nichol MC, Stull JT, Sanes JR. Role for Α-Dystrobrevin in the Pathogenesis of Dystrophin-Dependent Muscular Dystrophies. Nature Cell Biology. 1999;1(4):215-220.

Muntoni F, Torelli S, Ferlini A. Dystrophin and Mutations: One Gene, Several Proteins, Multiple Phenotypes. The Lancet Neurology. 2003;2(12):731-740.

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S. Diagnosis and Management of Duchenne Muscular Dystrophy, Part 2: Implementation of Multidisciplinary care. The Lancet Neurology. 2010;9(2):177-189.

Salera F.M. Nutritional Challenges in Duchenne Muscular Dystrophy. Nutrients. 2017;9(6):594.

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Griffiths RD, Edwards RHT. A new chart for weight control in Duchenne muscular dystrophy .Arch. Dis. Child. 1988;63:1256-1258.

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McDonald CM, Abresch RT, Carter GT, Fowler WMJr, Johnson ER, Kilmer DD, Sigford BJ. Profiles of neuromuscular diseases. Duchenne muscular dystrophy. Am. J. Phys. Med. Rehab. 1995;74:70-92.

Willig TN, Carlier L, Legrand M, Riviere H. Navarro J. Nutritional assessment in Duchenne muscular dystrophy. Dev. Med. Child Neurol. 1993;35:1074-1082.

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Pane M, Vasta I, Messina S, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Ricci E, Mercuri E. Feeding problems and weight gain in Duchenne muscular dystrophy. Eur. J. Pediatr. Neurol. 2006;10:231-236.

Shimizu-Fujiwara M, Komaki H, Nakagawa E, Mori-Yoshimura M, Oya Y, Fujisaki T, Tokita Y, Kubota N, Shimazaki R, Sato K, Ishikawa T, Goto K, Mochizuki H, Takanoha S, Ogata K, Kawai M, Konagaya M, Miyazaki T, Tatara K, Sugai K, Sasaki M. Decreased resting energy expenditure in patients with Duchenne muscular dysptropy. Brain Dev. 2012;34:206-212. https://doi.org/10.1016/j.braindev.2011.05.005

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Nagel BHP, Mortier W, Elmlinger M, Wollmann HA, Schmitt K, Ranke MB. Short stature in Duchenne muscular dystrophy: a study of 34 patients. Acta Paediatr. 1999;88:62-65.

Biggar WD, Harris VA, Eliasoph L, Alman B. Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscul. Disord. 2006;16:249-255.

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Pichiecchio A, Uggetti C, Egitto MG, Berardinelli A, Orcesi S, Gorni KOT, Zanardi C, Tagliabue A. (2002). Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophy. Eur. Radiol.12:2704-2709.

Mok, E., Beghin, L., Gachon, P., Daubrosse, C., Fontan, J.E., Cuisset, J.M., Gottrand, F. & Hankard, R. (2006a) Estimating body composition in children with Duchenne muscular dystrophy: comparison of bioelectrical impedance analysis and skinfold-thickness measurement. Am. J. Clin. Nutr. 83:65-69.

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Martigne L, Salleron J, Mayer M, et al. (2011). Natural evolution of weight status in Duchenne muscular dystrophy: a retrospective audit. Br J Nutr. 105:1486-1491.

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Desilva S, Drachman DB, Mellits D, Kuncl RW. (1987). Prednisone treatment in Duchenne muscular dystrophy. Long-term benefit. Arch. Neurol. 44: 818-822.

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Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, Sciarra F, Mangiola F, Kinali M, Bertini E, Bertini ES, Mercuri EM. (2008). Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul. Disord. 18: 389-393.

Jones K, Pitceathly RDS, Rose MR, McGowan S, Hill M, Badrising UA, Hughes T. (2016). Interventions for dysphagia in long-term, progressive muscle disease. Cochrane Database Syst. Rev. 2, CD004303.

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Birnkrant D, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 17(3): 251-267.

Mehta NM, Ndewman H, Tarrant S, Graham RJ. (2016). Nutritional status and nutrient intake challenges in children with spinal muscular atrophy. Pediatr. Neurol. 57: 80-83.

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Bushby K, Bourke J, Bullock R, Eagle M, Gibson M, Quinby J. (2005). The multidisciplinary management of Duchenne muscular dystrophy. Curr. Paediatr. 15: 292-300.

Martigne L, Seguy D, Pellegrini N, et al. (2010). Efficacy and tolerance of gastrostomy feeding in Duchenne muscular dystrophy. Clin Nutr. 29:60–64.

Davis J, Samuels E, Mullins L. (2015). Nutrition Considerations in Duchenne Muscular Dystrophy. Nutrition in Clinical Practice. 30(4): 511-521.

Kraus D, Wong BL, Horn PS, Kaul A. (2016). Constipation in Duchenne muscular dystrophy: prevalence, diagnosis, and treatment. J Pediatr. 171:183-188.

Borrelli O, Salvia G, Mancini V, Santoro L, Tagliente F, Romeo EF, Cucchiara S. Evolution of gastric electrical features and gastric emptying in children with Duchenne and Becker muscular dystrophy. Am J Gastroenterol. 2005;100:695-702.

Bianchi ML, Morandi L, Andreucci E, Vai S, Frasunkiewicz J, Cottafava R. Low bone density and bone metabolism alterations in Duchenne muscular dystrophy: Response to calcium and vitamin D treatment. Osteoporos. Int. (2011); 22:529–539.

Shimizu-Fujiwara M, Komaki H, Nakagawa E, Mori-Yoshimura M, Oya Y, Fujisaki T, Tokita Y, Kubota N, Shimazaki R, Sato K, Ishikawa T, Goto K, Mochizuki H, Takanoha S. Ogata K, Kawai M, Konagaya M, Miyazaki T, Tatara K, Sugai K, Sasaki M. Decreased resting energy expenditure in patients with Duchenne muscular dysptropy. Brain Dev. (2012); 34: 206.

Zanardi MC, RìTagliabue A, Orcesi S, Berardinelli A, Uggetti C, Pichiecchio A. Body composition and energy expenditure in Duchenne muscular dystrophy. Eur. J. Clin. Nutr. 2003;57:273-278.

Motoki T, Motohashi YS, Komaki H, Mori-Yoshimura M, Oya Y, Takeshita E, Ishiyama A, Saito T, Nakagawa E, Sugai K, Murata M, Sasaki M. Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients. Neuromuscul Disord, 2015;25(10):754-7.

Söderpalm AC, Magnusson P, Ahlander AC, Karlsson J, Kroskmark AK, Tulinius M, Swolin-Eide D. Low bone mineral density and decreased bone turnover in Duchenne muscular dystrophy. Neuromusculer Disorders. 2007;17(11-12):919-928.

Canalis E, Bilezikian JP, Angeli A, Giustina A. Perspectives on glucocorticoid-induced osteoporosis. Bone. 2004;34:593-598.

Ross AC, Taylor CL, Yaktine AL, Valle HBD, editors. Institute of Medicine. Dietary reference intakes for calcium and vitamin D. Washington, DC: The National Academies Press; 2011.

Ekici BY, Köseoğlu SZA. Duchenne Musküler Distrofi’si olan çocuklarda güncel tıbbi beslenme tedavisi ve önemi. European Journal of Science and Technology. 2022;41:436-441.

Emery A.E. The muscular dystrophies. British Medical Journal. 1998;317(7164): 991-995.

Coral-Vazquez R et al. Distruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell. 1999;98:465-474.

Michele DE et al. Post-translational distruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417-422.

Esapa CT, Bentham GRB, Schröder JE, Stephan K, Blake DJ. The effects of posttranslational processing on dystroglycan synthesis and trafficking. FEBS Lett. 2003;555:209-216.

Sarnat H.B. (2004). Muscular dystrophies. In Berhman RE, Kliegman RM, Jenson HB, Eds. Nelson Textbook of Pediatrics, 17th ed. Saunders; 69-2060.

Coral-Vazquez R ve ark. Distruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell. 1999;98:465-474.

Michele DE ve ark. Post-translational distruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417-422.

Cohn RD, Campell KP. Molecular basis of muscular dystrophies. Muscle Nerve. 2000;23:1456-1471.

Department of Health and Human Services (2006). Report to Congress on Implementation of the Muscular Community Assistance, Research and Education Amendments of 2001. National Institutes of Health.

Mercuri E, Bönnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019;394 (10213):2025-2038. doi:10.1016/S0140-6736(19)32910-1

Mc Nally EM, Tovbin JA. Cardiomyopathy in Muscular Dystrophy Workshop (Workshop report). Neuromuscular Disorders. 2004;14:442-448.

Guglieri M, Magri F, D’Angelo MG, Prelle A, Morandi L, Rodolico C, et al. (2008). Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Human Mutation. 2008;29(2):258-266.

Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. (2009). Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132(Pt 11): 3175-3186.

Dincer, P. (2006) Consanguinity and Neuromuscular DIsorders in Turkey[Bildiri]. 11th International Congress on Neuromuscular Disease (ICNMD). Istanbul, Türkiye.

Nigro V. Molecular bases of autosomal recessive limb-girdle muscular dystrophies. Acta Myologica. 2003;22(2):35-42.

Hoffman EP, ve ark. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919-928.

Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev. 2002;82:291-329.

Bansal D, Campbell K. Dysferlin and the plasma membrane repair in muscle dystrophy. Trends Cell Biol. 2004;14:206-213.

Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Rosenbaum SM, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosemann H. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Brain. 2000;123:1229-1237.

Duggan DJ, Hoffmann EP. Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex. Neuromuscul Disord. 1996;6:475-482.

Lim LE, Duclos F, Allamand V ve ark. _-Sarcoglycan (43 DAG): characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12. Nat Genet. 1995;11:257-265.

Bönnemann CG, Modi R, Noguchi S ve ark. _-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 1995;11:266-273.

Jung D, Leturcq E, Sunada Y, Duclos F, Tome FM, Moomaw C, Merlini L, Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan JC, Campbell KP. Absence of gammasarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett.1996;381:15-20.

Kapoor S, Tatke M, Aggorwal S, Gupta A. Beta-sarcoglycanopathy. Indian J Pediatr 2005;72:71-74.

Sharma MC, Manan R, Singh NG, Gulati S, Karla V, Sarkar C. Sarcoglycanopathies: An enigmatic form of muscular dystrophy- A report of 7 cases. Neurology India. 2004;52:446-449.

Draviam RA, Wang B, Shand SH, Watkins SC. _-Sarcoglycan is recycled from the plasma membrane in the absence of sarcoglycan complex assembly. Traffic. 2006;7:793-810.

Ozawa E, Mizuno Y, Hagiwara Y, Sasaoka T, Yoshida M. Molecular and cell biology of the sarcoglycan complex. Muscle Nerve. 2005;32:563-576.

Roberts RG, Coffey AJ, Bobrow M, Bentley DR. Exon structure of the human dystrophin gene. Genomics 1993;16:536-538.

Kılıç Z. Nöromusküler Hastalıklarda Kardiak Etkilenme. T Klin J Ped Sp Iss. 2003;1:263 -267.

Bar S, Barnea E, Levy Z, Neuman S, Yaffe D, Nudel U. A novel product of the Duchenne muscular dystrophy gene which greatly differs from the isoforms in its structure and tissue distribution. Biochem J. 1990;272:557-560.

Koening M, Kunkel LM. Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem.1990;265:4560-4566.

Lapidos KA, Kakkar R, McNally EM. The dystrophin glycoprotein complex: signal strenght and ıntegrity for the sarcolemma. Circ Res. 2004;94:1023-1031.

Stradal T, Kranewitter W, Winder SJ, Gimona M. CH domains revisited. FEBS Lett. 1998;431:134-137.

Jung D, Yang B, Meyer J, Chamberlain JS, Campbell KP. Identification and characterization of the dystrophin anchoring site on _-dystroglycan. J Biol Chem. 1995;270:27305-27310.

Ishikawa-Sakurai M, Yoshida M, Imamura M, Davies KE, Ozawa E. ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to β-dystroglycan. Hum Mol Genet. 2004;13:693-702.

Dooley J, Gordon KE, Dodds L, MacSween J. Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatry (Phila). 2010;49(2):177-179. doi: 10.1177/ 0009922809347777.

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S. Diagnosis and Management of Duchenne Muscular Dystrophy, Part 1: Diagnosis, and Pharmacological and Psychosocial Management. The Lancet Neurology. 2010;9(1): 77-93.

Cohn RD, Campell KP. Molecular basis of muscular dystrophies. Muscle Nerve. 2000; 23:1456-1471.

Lisak RP, Truong D, Carroll WM, & Bhidayasiri, R. (2016). International neurology (Second edition). Wiley.

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