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Volumn 27, Issue 3, 2012, Pages 363-382

Consensus statement on standard of care for congenital myopathies

(34)  Wang, Ching H a   Dowling, James J b   North, Kathryn c   Schroth, Mary K d   Sejersen, Thomas e   Shapiro, Frederic f   Bellini, Jonathan a   Weiss, Hali a   Guillet, Marc g   Amburgey, Kimberly b   Apkon, Susan h   Bertini, Enrico i   Bonnemann, Carsten j   Clarke, Nigel c   Connolly, Anne M k   Estournet Mathiaud, Brigitte l   Fitzgerald, Dominic c   Florence, Julaine M k   Gee, Richard a   Gurgel Giannetti, Juliana m   more..


Author keywords

cap; central core; centronuclear; congenital myopathy; myosin storage; myotubular; nemaline; rod; standard of care; zebra body

Indexed keywords

ACUTE RESPIRATORY FAILURE; ANTICIPATORY GUIDANCE; ARTICLE; CHRONIC RESPIRATORY FAILURE; CONSENSUS; DISEASE ASSOCIATION; DISEASE COURSE; EXERCISE; FATIGUE; FOLLOW UP; HEALTH CARE SURVEY; HEREDITARY MUSCLE DISEASE; HUMAN; INTERVIEW; JOINT CONTRACTURE; MALIGNANT HYPERTHERMIA; MEDICAL EXPERT; MOBILIZATION; MYOPATHY; NONINVASIVE VENTILATION; NUTRITION; PAIN; PATIENT CARE; PERIOPERATIVE PERIOD; PRACTICE GUIDELINE; PREGNANCY; PRIORITY JOURNAL; PROGNOSIS; REHABILITATION CARE; RESPIRATION CONTROL; SCOLIOSIS; STANDING; TRACHEOTOMY; WORKSHOP;

EID: 84863345557     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812436605     Document Type: Article
Times cited : (142)

References (108)
  • 2
    • 51649123667 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes in childhood: Diagnostic and management challenges
    • Kinali M, Beeson D, Pitt MC, et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol. 2008;201-202:6-12.
    • (2008) J Neuroimmunol , vol.201-202 , pp. 6-12
    • Kinali, M.1    Beeson, D.2    Pitt, M.C.3
  • 4
    • 0036358705 scopus 로고    scopus 로고
    • Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease
    • Abresch RT, Carter GT, Jensen MP, Kilmer DD. Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. Am J Hosp Palliat Care. 2002;19(1):39-48.
    • (2002) Am J Hosp Palliat Care , vol.19 , Issue.1 , pp. 39-48
    • Abresch, R.T.1    Carter, G.T.2    Jensen, M.P.3    Kilmer, D.D.4
  • 6
    • 0032477313 scopus 로고    scopus 로고
    • Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): Four illustrative case reports
    • DOI 10.1016/S0960-8966(98)00088-1
    • Bushby KM, Pollitt C, Johnson MA, Rogers MT, Chinnery PF. Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports. Neuromuscul Disord. 1998;8(8):574-579. (Pubitemid 28555740)
    • (1998) Neuromuscular Disorders , vol.8 , Issue.8 , pp. 574-579
    • Bushby, K.M.D.1    Pollitt, C.2    Johnson, M.A.3    Rogers, M.T.4    Chinnery, P.F.5
  • 7
    • 0141740663 scopus 로고    scopus 로고
    • Myalgia as the revealing symptom of multicore disease and fibre type disproportion myopathy
    • Sobreira C, Marques W Jr, Barreira AA. Myalgia as the revealing symptom of multicore disease and fibre type disproportion myopathy. J Neurol Neurosurg Psychiatry. 2003;74(9):1317-1319.
    • (2003) J Neurol Neurosurg Psychiatry , vol.74 , Issue.9 , pp. 1317-1319
    • Sobreira, C.1    Marques Jr., W.2    Barreira, A.A.3
  • 12
    • 0036235454 scopus 로고    scopus 로고
    • Management of myogenic ptosis
    • DOI 10.1016/S0161-6420(02)01009-6, PII S0161642002010096
    • Wong VA, Beckingsale PS, Oley CA, Sullivan TJ. Management of myogenic ptosis. Ophthalmology. 2002;109(5):1023-1031. (Pubitemid 34465241)
    • (2002) Ophthalmology , vol.109 , Issue.5 , pp. 1023-1031
    • Wong, V.A.1    Beckingsale, P.S.2    Oley, C.A.3    Sullivan, T.J.4
  • 13
    • 0022411641 scopus 로고
    • Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children
    • Heckmatt JZ, Sewry CA, Hodes D, Dubowitz V. Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children. Brain. 1985;108 (pt 4):941-964. (Pubitemid 16185410)
    • (1985) Brain , vol.108 , Issue.4 , pp. 941-964
    • Heckmatt, J.Z.1    Sewry, C.A.2    Hodes, D.3    Dubowitz, V.4
  • 14
    • 0016815327 scopus 로고
    • X-linked myotubular myopathy with fatal neonatal asphyxia
    • Barth PG, Van Wijngaarden GK, Bethlem J. X-linked myotubular myopathy with fatal neonatal asphyxia. Neurology. 1975;25(6):531-536.
    • (1975) Neurology , vol.25 , Issue.6 , pp. 531-536
    • Barth, P.G.1    Van Wijngaarden, G.K.2    Bethlem, J.3
  • 19
    • 0030064059 scopus 로고    scopus 로고
    • Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy
    • DOI 10.1007/s002469900011
    • OhkuboM, Ino T, Shimazaki S, Yabuto K, Okada R, Sato T.Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy. Pediatr Cardiol. 1996;17(1):53-56. (Pubitemid 26001327)
    • (1996) Pediatric Cardiology , vol.17 , Issue.1 , pp. 53-56
    • Ohkubo, M.1    Ino, T.2    Shimazaki, S.3    Yabuta, K.4    Okada, R.5    Sato, T.6
  • 25
    • 0033757859 scopus 로고    scopus 로고
    • Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases
    • Ferreiro A, Estournet B, Chateau D, et al. Multi-minicore disease-searching for boundaries: phenotype analysis of 38 cases. Ann Neurol. 2000;48(5):745-757.
    • (2000) Ann Neurol , vol.48 , Issue.5 , pp. 745-757
    • Ferreiro, A.1    Estournet, B.2    Chateau, D.3
  • 26
    • 33846443624 scopus 로고    scopus 로고
    • Pregnancy in a patient with nemaline myopathy
    • DOI 10.1097/01.AOG.0000219748.63451.2c, PII 0000625020070200100009
    • Eskandar OS, Eckford SD. Pregnancy in a patient with nemaline myopathy. Obstet Gynecol. 2007;109(2 pt 2):501-504. (Pubitemid 46146840)
    • (2007) Obstetrics and Gynecology , vol.109 , Issue.2 PART 2 SUPPL. , pp. 501-504
    • Eskandar, O.S.1    Eckford, S.D.2
  • 27
    • 1842417080 scopus 로고    scopus 로고
    • Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies
    • Rudnik-Schoneborn S, Glauner B, Rohrig D, Zerres K. Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies. Arch Neurol. 1997;54(7):888-894. (Pubitemid 27306626)
    • (1997) Archives of Neurology , vol.54 , Issue.7 , pp. 888-894
    • Rudnik-Schoneborn, S.1    Glauner, B.2    Rohrig, D.3    Zerres, K.4
  • 29
    • 78249290502 scopus 로고    scopus 로고
    • RYR1 mutations are a common cause of congenital myopathies with central nuclei
    • Wilmshurst JM, Lillis S, Zhou H, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010;68(5):717-726.
    • (2010) Ann Neurol , vol.68 , Issue.5 , pp. 717-726
    • Wilmshurst, J.M.1    Lillis, S.2    Zhou, H.3
  • 30
    • 37849052426 scopus 로고    scopus 로고
    • Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
    • Bitoun M, Bevilacqua JA, Prudhon B, et al. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol. 2007;62(6):666-670.
    • (2007) Ann Neurol , vol.62 , Issue.6 , pp. 666-670
    • Bitoun, M.1    Bevilacqua, J.A.2    Prudhon, B.3
  • 31
    • 77950919875 scopus 로고    scopus 로고
    • Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
    • Susman RD, Quijano-Roy S, Yang N, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord. 2010;20(4):229-237.
    • (2010) Neuromuscul Disord , vol.20 , Issue.4 , pp. 229-237
    • Susman, R.D.1    Quijano-Roy, S.2    Yang, N.3
  • 39
    • 77954027244 scopus 로고    scopus 로고
    • Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3
    • Waddell LB, Kreissl M, Kornberg A, et al. Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010;20(7):464-466.
    • (2010) Neuromuscul Disord , vol.20 , Issue.7 , pp. 464-466
    • Waddell, L.B.1    Kreissl, M.2    Kornberg, A.3
  • 40
    • 77951255913 scopus 로고    scopus 로고
    • Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation
    • Kiphuth IC, Krause S, Huttner HB, Dekomien G, Struffert T, Schroder R. Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation. J Neurol. 2010;257(4):658-660.
    • (2010) J Neurol , vol.257 , Issue.4 , pp. 658-660
    • Kiphuth, I.C.1    Krause, S.2    Huttner, H.B.3    Dekomien, G.4    Struffert, T.5    Schroder, R.6
  • 41
    • 57149111504 scopus 로고    scopus 로고
    • Dynamin 2-related centronuclear myopathy: Clinical, histological and genetic aspects of further patients and review of the literature
    • Nov
    • Jeub M, Bitoun M, Guicheney P, et al. Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature. Clin Neuropathol. Nov-2008;27(6):430-438.
    • (2008) Clin Neuropathol , vol.27 , Issue.6 , pp. 430-438
    • Jeub, M.1    Bitoun, M.2    Guicheney, P.3
  • 44
    • 0023810886 scopus 로고
    • Orthopaedic aspects of central core disease
    • Gamble JG, Rinsky LA, Lee JH. Orthopaedic aspects of central core disease. J Bone Joint Surg Am. 1988;70(7):1061-1066.
    • (1988) J Bone Joint Surg Am , vol.70 , Issue.7 , pp. 1061-1066
    • Gamble, J.G.1    Rinsky, L.A.2    Lee, J.H.3
  • 45
    • 63749107215 scopus 로고    scopus 로고
    • 161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008
    • Laing NG, Wallgren-Pettersson C. 161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008. Neuromuscul Disord. 2009;19(4): 300-305.
    • (2009) Neuromuscul Disord , vol.19 , Issue.4 , pp. 300-305
    • Laing, N.G.1    Wallgren-Pettersson, C.2
  • 47
    • 79956088503 scopus 로고    scopus 로고
    • King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    • Dowling JJ, Lillis S, Amburgey K, et al. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2011;21(6):420-427.
    • (2011) Neuromuscul Disord , vol.21 , Issue.6 , pp. 420-427
    • Dowling, J.J.1    Lillis, S.2    Amburgey, K.3
  • 49
    • 70350459096 scopus 로고    scopus 로고
    • Genetic variation in RYR1 and malignant hyperthermia phenotypes
    • Carpenter D, Robinson RL, Quinnell RJ, et al. Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth. 2009;103(4):538-548.
    • (2009) Br J Anaesth , vol.103 , Issue.4 , pp. 538-548
    • Carpenter, D.1    Robinson, R.L.2    Quinnell, R.J.3
  • 50
    • 0036159210 scopus 로고    scopus 로고
    • Characterization of mutations in fifty North American patients with X-linked myotubular myopathy
    • DOI 10.1002/humu.10033
    • Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002;19(2): 114-121. (Pubitemid 34121802)
    • (2002) Human Mutation , vol.19 , Issue.2 , pp. 114-121
    • Herman, G.E.1    Kopacz, K.2    Zhao, W.3    Mills, P.L.4    Metzenberg, A.5    Das, S.6
  • 51
    • 0032986873 scopus 로고    scopus 로고
    • Medical complications in long-term survivors with X-linked myotubular myopathy
    • DOI 10.1016/S0022-3476(99)70417-8
    • Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr. 1999;134(2):206-214. (Pubitemid 29089046)
    • (1999) Journal of Pediatrics , vol.134 , Issue.2 , pp. 206-214
    • Herman, G.E.1    Finegold, M.2    Zhao, W.3    De Gouyon, B.4    Metzenberg, A.5
  • 53
    • 27144466330 scopus 로고    scopus 로고
    • Sporadic late onset nemaline myopathy
    • DOI 10.1212/01.wnl.0000180362.90078.dc
    • Chahin N, Selcen D, Engel AG. Sporadic late onset nemaline myopathy. Neurology. 2005;65(8):1158-1164. (Pubitemid 41508203)
    • (2005) Neurology , vol.65 , Issue.8 , pp. 1158-1164
    • Chahin, N.1    Selcen, D.2    Engel, A.G.3
  • 54
    • 76649104315 scopus 로고    scopus 로고
    • Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy
    • Milone M, Katz A, Amato AA, et al. Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy. Muscle Nerve. 2010;41(2):272-276.
    • (2010) Muscle Nerve , vol.41 , Issue.2 , pp. 272-276
    • Milone, M.1    Katz, A.2    Amato, A.A.3
  • 55
    • 76649126372 scopus 로고    scopus 로고
    • Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy
    • Novy J, Rosselet A, Spertini O, Lobrinus JA, Pabst T, Kuntzer T. Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy. Muscle Nerve. 2010;41(2):286-287.
    • (2010) Muscle Nerve , vol.41 , Issue.2 , pp. 286-287
    • Novy, J.1    Rosselet, A.2    Spertini, O.3    Lobrinus, J.A.4    Pabst, T.5    Kuntzer, T.6
  • 56
    • 53749106962 scopus 로고    scopus 로고
    • Sporadic lateonset nemaline myopathy effectively treated by melphalan and stem cell transplant
    • 12
    • Voermans NC, Minnema M, Lammens M, et al. Sporadic lateonset nemaline myopathy effectively treated by melphalan and stem cell transplant. Neurology. 12 2008;71(7):532-534.
    • (2008) Neurology , vol.71 , Issue.7 , pp. 532-534
    • Voermans, N.C.1    Minnema, M.2    Lammens, M.3
  • 58
    • 62449111669 scopus 로고    scopus 로고
    • Pathological defects in congenital myopathies
    • Sewry CA. Pathological defects in congenital myopathies. J Muscle Res Cell Motil. 2008;29(6-8):231-238.
    • (2008) J Muscle Res Cell Motil , vol.29 , Issue.6-8 , pp. 231-238
    • Sewry, C.A.1
  • 59
    • 46149104744 scopus 로고    scopus 로고
    • What's new in congenital myopathies?
    • North K. What's new in congenital myopathies? Neuromuscul Disord. 2008;18(6):433-442.
    • (2008) Neuromuscul Disord , vol.18 , Issue.6 , pp. 433-442
    • North, K.1
  • 61
    • 0029981304 scopus 로고    scopus 로고
    • Sleep studies and supportive ventilatory treatment in patients with congenital muscle disorders
    • Khan Y, Heckmatt JZ, Dubowitz V. Sleep studies and supportive ventilatory treatment in patients with congenital muscle disorders. Arch Dis Child. 1996;74(3):195-200. (Pubitemid 26094432)
    • (1996) Archives of Disease in Childhood , vol.74 , Issue.3 , pp. 195-200
    • Khan, Y.1    Heckmatt, J.Z.2    Dubowitz, V.3
  • 62
    • 0034111385 scopus 로고    scopus 로고
    • Multicore myopathy: Respiratory failure and paraspinal muscle contractures are important complications
    • DOI 10.1017/S0012162200000591
    • Rowe PW, Eagle M, Pollitt C, Bullock RE, Bushby KM. Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications. Dev Med Child Neurol. 2000;42(5):340-343. (Pubitemid 30307442)
    • (2000) Developmental Medicine and Child Neurology , vol.42 , Issue.5 , pp. 340-343
    • Rowe, P.W.1    Eagle, M.2    Pollitt, C.3    Bullock, R.E.4    Bushby, K.M.D.5
  • 63
    • 0030248407 scopus 로고    scopus 로고
    • A follow-up study of congenital non-progressive myopathies
    • DOI 10.1016/0387-7604(96)00042-3
    • Akiyama C, Nonaka I. A follow-up study of congenital non-progressive myopathies. Brain Dev. 1996;18(5):404-408. (Pubitemid 26336379)
    • (1996) Brain and Development , vol.18 , Issue.5 , pp. 404-408
    • Akiyama, C.1    Nonaka, I.2
  • 66
    • 0030836352 scopus 로고    scopus 로고
    • Respiratory failure in nemaline myopathy
    • DOI 10.1016/S0887-8994(97)00032-5, PII S0887899497000325
    • Sasaki M, Takeda M, Kobayashi K, Nonaka I. Respiratory failure in nemaline myopathy. Pediatr Neurol. 1997;16(4):344-346. (Pubitemid 27329945)
    • (1997) Pediatric Neurology , vol.16 , Issue.4 , pp. 344-346
    • Sasaki, M.1    Takeda, M.2    Kobayashi, K.3    Nonaka, I.4
  • 68
    • 0344687355 scopus 로고    scopus 로고
    • 117th ENMC workshop: Ventilatory support in congenital neuromuscular disorders - Congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands
    • DOI 10.1016/j.nmd.2003.09.003
    • Wallgren-Pettersson C, Bushby K, Mellies U, Simonds A. 117th ENMC workshop: ventilatory support in congenital neuromuscular disorders- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. Neuromuscul Disord. 2004;14(1):56-69. (Pubitemid 37494955)
    • (2004) Neuromuscular Disorders , vol.14 , Issue.1 , pp. 56-69
    • Wallgren-Pettersson, C.1    Bushby, K.2    Mellies, U.3    Simonds, A.4
  • 69
    • 33845954376 scopus 로고    scopus 로고
    • Recent advances in respiratory care for neuromuscular disease
    • DOI 10.1378/chest.130.6.1879
    • Simonds AK. Recent advances in respiratory care for neuromuscular disease. Chest. 2006;130(6):1879-1886. (Pubitemid 46033449)
    • (2006) Chest , vol.130 , Issue.6 , pp. 1879-1886
    • Simonds, A.K.1
  • 70
    • 0027374459 scopus 로고
    • Mechanical insufflation-exsufflation: Comparison of peak expiratory flows with manually assisted and unassisted coughing techniques
    • Bach JR. Mechanical insufflation-exsufflation. Comparison of peak expiratory flows with manually assisted and unassisted coughing techniques. Chest. 1993;104(5):1553-1562. (Pubitemid 23327880)
    • (1993) Chest , vol.104 , Issue.5 , pp. 1553-1562
    • Bach, J.R.1
  • 71
    • 0035989843 scopus 로고    scopus 로고
    • Noninvasive ventilation for chest wall and neuromuscular disorders
    • Shneerson JM, Simonds AK. Noninvasive ventilation for chest wall and neuromuscular disorders. Eur Respir J. 2002;20(2):480-487.
    • (2002) Eur Respir J , vol.20 , Issue.2 , pp. 480-487
    • Shneerson, J.M.1    Simonds, A.K.2
  • 72
    • 26944453349 scopus 로고    scopus 로고
    • Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia
    • DOI 10.1136/thx.2004.037424
    • Ward S, Chatwin M, Heather S, Simonds AK. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. 2005;60(12):1019-1024. (Pubitemid 41705470)
    • (2005) Thorax , vol.60 , Issue.12 , pp. 1019-1024
    • Ward, S.1    Chatwin, M.2    Heather, S.3    Simonds, A.K.4
  • 74
    • 75149197895 scopus 로고    scopus 로고
    • Sleep, sleep disordered breathing, and nocturnal hypoventilation in children with neuromuscular diseases
    • Arens R, Muzumdar H. Sleep, sleep disordered breathing, and nocturnal hypoventilation in children with neuromuscular diseases. Paediatr Respir Rev. 2010;11(1):24-30.
    • (2010) Paediatr Respir Rev , vol.11 , Issue.1 , pp. 24-30
    • Arens, R.1    Muzumdar, H.2
  • 75
    • 0018080196 scopus 로고
    • Prediction of spirometric values in patients with scoliosis
    • Linderholm H, Lindgren U. Prediction of spirometric values in patients with scoliosis. Acta Orthop Scand. 1978;49(5):469-474. (Pubitemid 9044590)
    • (1978) Acta Orthopaedica Scandinavica , vol.49 , Issue.5 , pp. 469-474
    • Linderholm, H.1    Lindgren, U.2
  • 78
    • 78650184558 scopus 로고    scopus 로고
    • Consensus statement on standard of care for congenital muscular dystrophies
    • Wang CH, Bonnemann CG, Rutkowski A, et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010;25(12):1559-1581.
    • (2010) J Child Neurol , vol.25 , Issue.12 , pp. 1559-1581
    • Wang, C.H.1    Bonnemann, C.G.2    Rutkowski, A.3
  • 79
    • 37549052515 scopus 로고    scopus 로고
    • American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation
    • Birnkrant DJ, Panitch HB, Benditt JO, et al. American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation. Chest. 2007;132(6):1977-1986.
    • (2007) Chest , vol.132 , Issue.6 , pp. 1977-1986
    • Birnkrant, D.J.1    Panitch, H.B.2    Benditt, J.O.3
  • 80
    • 0034906020 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in nemaline myopathy - A disease of skeletal muscle thin filaments
    • DOI 10.1016/S1471-4914(01)02089-5
    • Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy-a disease of skeletal muscle thin filaments. Trends Mol Med. 2001;7(8):362-368. (Pubitemid 32735022)
    • (2001) Trends in Molecular Medicine , vol.7 , Issue.8 , pp. 362-368
    • Sanoudou, D.1    Beggs, A.H.2
  • 81
    • 0023631499 scopus 로고
    • Central core disease. Clinical features in 13 patients
    • Shuaib A, Paasuke RT, Brownell KW. Central core disease. Clinical features in 13 patients. Medicine (Baltimore). 1987;66(5):389-396. (Pubitemid 18020234)
    • (1987) Medicine , vol.66 , Issue.5 , pp. 389-396
    • Shuaib, A.1    Paasuke, R.T.2    Brownell, A.K.W.3
  • 82
    • 0347753520 scopus 로고    scopus 로고
    • A New Mutation in the Skeletal Ryanodine Receptor Gene (RYR1) Is Potentially Causative of Malignant Hyperthermia, Central Core Disease, and Severe Skeletal Malformation
    • Rueffert H, Olthoff D, Deutrich C, Schober R, Froster UG. A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. Am J Med Genet A. 2004;124A(3):248-254. (Pubitemid 38082209)
    • (2004) American Journal of Medical Genetics , vol.124 A , Issue.3 , pp. 248-254
    • Rueffert, H.1    Olthoff, D.2    Deutrich, C.3    Schober, R.4    Froster, U.G.5
  • 85
    • 33846849305 scopus 로고    scopus 로고
    • Management themes in early onset scoliosis
    • DOI 10.2106/JBJS.F.01256
    • Akbarnia BA. Management themes in early onset scoliosis. J Bone Joint Surg Am. 2007;89(suppl 1):42-54. (Pubitemid 46214326)
    • (2007) Journal of Bone and Joint Surgery - Series A , vol.89 , Issue.SUPPL. 1 , pp. 42-54
    • Akbarnia, B.A.1
  • 86
    • 0016585584 scopus 로고
    • Molded plexidur corrective corsets in the treatment of paralytic scolioses: Evaluation after 7 years usage
    • Duval-Beaupere G, Poiffaut A, Bouvier CL, Garibal JC, Assicot J. [Molded plexidur corrective corsets in the treatment of paralytic scolioses: evaluation after 7 years usage]. Acta Orthop Belg. 1975;41(6):652-659.
    • (1975) Acta Orthop Belg , vol.41 , Issue.6 , pp. 652-659
    • Duval-Beaupere, G.1    Poiffaut, A.2    Bouvier, C.L.3    Garibal, J.C.4    Assicot, J.5
  • 88
    • 78649473226 scopus 로고    scopus 로고
    • Complications of growing-rod treatment for early-onset scoliosis: Analysis of one hundred and forty patients
    • Bess S, Akbarnia BA, Thompson GH, et al. Complications of growing-rod treatment for early-onset scoliosis: analysis of one hundred and forty patients. J Bone Joint Surg Am. 2010;92(15):2533-2543.
    • (2010) J Bone Joint Surg Am , vol.92 , Issue.15 , pp. 2533-2543
    • Bess, S.1    Akbarnia, B.A.2    Thompson, G.H.3
  • 91
    • 70349572483 scopus 로고    scopus 로고
    • The association of malignant hyperthermia and unusual disease: When you're hot you're hot or maybe not
    • Davis PJ, Brandom BW. The association of malignant hyperthermia and unusual disease: when you're hot you're hot or maybe not. Anesth Analg. 2009;109(4):1001-1003.
    • (2009) Anesth Analg , vol.109 , Issue.4 , pp. 1001-1003
    • Davis, P.J.1    Brandom, B.W.2
  • 92
  • 93
    • 0026540998 scopus 로고
    • Height measurement of patients with neuromuscular disease and contractures
    • Miller F, Koreska J. Height measurement of patients with neuromuscular disease and contractures. Dev Med Child Neurol. 1992;34(1):55-60.
    • (1992) Dev Med Child Neurol , vol.34 , Issue.1 , pp. 55-60
    • Miller, F.1    Koreska, J.2
  • 94
    • 0035650625 scopus 로고    scopus 로고
    • Swallowing function and medical diagnoses in infants suspected of dysphagia
    • Newman LA, Keckley C, Petersen MC, Hamner A. Swallowing function and medical diagnoses in infants suspected of dysphagia. Pediatrics. 2001;108(6): E106.
    • (2001) Pediatrics , vol.108 , Issue.6
    • Newman, L.A.1    Keckley, C.2    Petersen, M.C.3    Hamner, A.4
  • 95
    • 0028454293 scopus 로고
    • A global perspective on feeding assessment in the neonatal intensive care unit
    • Glass RP, Wolf LS. A global perspective on feeding assessment in the neonatal intensive care unit. Am J Occup Ther. 1994;48(6):514-526.
    • (1994) Am J Occup Ther , vol.48 , Issue.6 , pp. 514-526
    • Glass, R.P.1    Wolf, L.S.2
  • 97
    • 34248373341 scopus 로고    scopus 로고
    • Gastrostomy placement in paediatric patients with neuromuscular disorders: Indications and outcome
    • DOI 10.1111/j.1469-8749.2007.00367.x
    • Ramelli GP, Aloysius A, King C, Davis T, Muntoni F. Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome. Dev Med Child Neurol. 2007;49(5):367-371. (Pubitemid 46730689)
    • (2007) Developmental Medicine and Child Neurology , vol.49 , Issue.5 , pp. 367-371
    • Ramelli, G.P.1    Aloysius, A.2    King, C.3    Davis, T.4    Muntoni, F.5
  • 98
    • 0023832063 scopus 로고
    • Gastroesophageal reflux associated with nemaline myopathy of infancy
    • Berezin S, Newman LJ, Schwarz SM, Spiro AJ. Gastroesophageal reflux associated with nemaline myopathy of infancy. Pediatrics. 1988;81(1):111-115. (Pubitemid 18044300)
    • (1988) Pediatrics , vol.81 , Issue.1 , pp. 111-115
    • Berezin, S.1    Newman, L.J.2    Schwarz, S.M.3    Spiro, A.J.4
  • 100
    • 33645063213 scopus 로고    scopus 로고
    • Feeding and speech difficulties in typical congenital neamline myopathy
    • Bagnall AA-M, A, Manzur AY. Feeding and speech difficulties in typical congenital neamline myopathy. Advances in Speech-Language Pathology. 2006;8(1):7-16.
    • (2006) Advances in Speech-Language Pathology , vol.8 , Issue.1 , pp. 7-16
    • Bagnall, A.A.-M.A.1    Manzur, A.Y.2
  • 101
    • 35948994541 scopus 로고    scopus 로고
    • Dentofacial characteristics of growing patients with Duchenne muscular dystrophy: A morphological study
    • Morel-Verdebout C, Botteron S, Kiliaridis S. Dentofacial characteristics of growing patients with Duchenne muscular dystrophy: a morphological study. Eur J Orthod. 2007;29(5):500-507.
    • (2007) Eur J Orthod , vol.29 , Issue.5 , pp. 500-507
    • Morel-Verdebout, C.1    Botteron, S.2    Kiliaridis, S.3
  • 102
    • 33845423658 scopus 로고    scopus 로고
    • Bite Force and Maxillofacial Morphology in Patients With Duchenne-Type Muscular Dystrophy
    • DOI 10.1016/j.joms.2005.11.108, PII S0278239106014005
    • Ueki K, Nakagawa K, Yamamoto E. Bite force and maxillofacial morphology in patients with Duchenne-type muscular dystrophy. J Oral Maxillofac Surg. 2007;65(1):34-39. (Pubitemid 44894689)
    • (2007) Journal of Oral and Maxillofacial Surgery , vol.65 , Issue.1 , pp. 34-39
    • Ueki, K.1    Nakagawa, K.2    Yamamoto, E.3
  • 105
    • 33947518989 scopus 로고    scopus 로고
    • Duchenne muscular dystrophy-a dental healthcare program
    • Jan
    • Mielnik-Blaszczak M, Malgorzata B. Duchenne muscular dystrophy-a dental healthcare program. Spec Care Dentist. Jan-2007;27(1):23-25.
    • (2007) Spec Care Dentist , vol.27 , Issue.1 , pp. 23-25
    • Mielnik-Blaszczak, M.1    Malgorzata, B.2
  • 107
    • 77949412684 scopus 로고    scopus 로고
    • Care continuity for patients with myopathy during transition of childhood to adulthood
    • Yoshioka M, Tsuji M, Kawamoto M, Kouhara N. [Care continuity for patients with myopathy during transition of childhood to adulthood]. Nippon Rinsho. 2010;68(1):53-56.
    • (2010) Nippon Rinsho , vol.68 , Issue.1 , pp. 53-56
    • Yoshioka, M.1    Tsuji, M.2    Kawamoto, M.3    Kouhara, N.4
  • 108
    • 59449095511 scopus 로고    scopus 로고
    • Planning for health care transitions: Results from the 2005-2006 National Survey of Children with Special Health Care Needs
    • Lotstein DS, Ghandour R, Cash A, McGuire E, Strickland B, Newacheck P. Planning for health care transitions: results from the 2005-2006 National Survey of Children With Special Health Care Needs. Pediatrics. 2009;123(1): e145-e152.
    • (2009) Pediatrics , vol.123 , Issue.1
    • Lotstein, D.S.1    Ghandour, R.2    Cash, A.3    McGuire, E.4    Strickland, B.5    Newacheck, P.6


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