Congenital Myopathies Questions & Answers

1. Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, et al. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr. 2017 Nov 15. 43 (1):101. [QxMD MEDLINE Link].

2. Dubowitz V, Sewry CA, Oldfors A. Muscle Biopsy: A Practical Approach. 4th. Edinburgh: Saunders/Elsevier; 2013.

3. Laugel V, Cossée M, Matis J, de Saint-Martin A, Echaniz-Laguna A, Mandel JL, et al. Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates. Eur J Pediatr. 2008 May. 167 (5):517-23. [QxMD MEDLINE Link].

4. Birdi K, Prasad AN, Prasad C, Chodirker B, Chudley AE. The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility. J Child Neurol. 2005 Oct. 20 (10):803-8. [QxMD MEDLINE Link].

5. Colombo I, Scoto M, Manzur AY, Robb SA, Maggi L, Gowda V, et al. Congenital myopathies: Natural history of a large pediatric cohort. Neurology. 2015 Jan 6. 84 (1):28-35. [QxMD MEDLINE Link].

6. Ryan MM, Schnell C, Strickland CD, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. 2001 Sep. 50(3):312-20. [QxMD MEDLINE Link].

7. Wattanasirichaigoon D, Swoboda KJ, Takada F, et al. Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology. 2002 Aug 27. 59(4):613-7. [QxMD MEDLINE Link].

8. Moraczewska J, Greenfield NJ, Liu Y, Hitchcock-DeGregori SE. Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation. Biophys J. 2000 Dec. 79(6):3217-25. [QxMD MEDLINE Link].

9. Corbett MA, Akkari PA, Domazetovska A, et al. An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Ann Neurol. 2005 Jan. 57(1):42-9. [QxMD MEDLINE Link].

10. Michele DE, Albayya FP, Metzger JM. A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. J Clin Invest. 1999 Dec. 104(11):1575-81. [QxMD MEDLINE Link].

11. Lehtokari VL, Pelin K, Sandbacka M, et al. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat. 2006 Sep. 27(9):946-56. [QxMD MEDLINE Link].

12. Wallgren-Pettersson C, Clarke A, Samson F, et al. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet. 1995 Sep. 32(9):673-9. [QxMD MEDLINE Link].

13. Cassandra L. Kniffin. ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1. OMIM. Available at https://www.omim.org/entry/102610. 3/11/2016; Accessed: 2/27/2018.

14. Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, et al. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat. 2009 Sep. 30(9):1267-77. [QxMD MEDLINE Link]. [Full Text].

15. Agrawal PB, Strickland CD, Midgett C, et al. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol. 2004 Jul. 56(1):86-96. [QxMD MEDLINE Link].

16. Bornemann A, Petersen MB, Schmalbruch H. Fatal congenital myopathy with actin filament deposits. Acta Neuropathol. 1996 Jul. 92(1):104-8. [QxMD MEDLINE Link].

17. Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, et al. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet. 2004 Nov. 41(11):842-8. [QxMD MEDLINE Link]. [Full Text].

18. Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, et al. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. Neuromuscul Disord. 2009 Feb. 19(2):118-23. [QxMD MEDLINE Link].

19. Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, et al. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord. 2007 Jun. 17(6):433-42. [QxMD MEDLINE Link].

20. Johnston JJ, Kelley RI, Crawford TO, et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet. 2000 Oct. 67(4):814-21. [QxMD MEDLINE Link].

21. Jin JP, Brotto MA, Hossain MM, Huang QQ, Brotto LS, Nosek TM. Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. J Biol Chem. 2003 Jul 11. 278(28):26159-65. [QxMD MEDLINE Link].

22. Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet. 2010 Dec 10. 87(6):842-7. [QxMD MEDLINE Link].

23. Agrawal PB, Greenleaf RS, Tomczak KK, et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007 Jan. 80(1):162-7. [QxMD MEDLINE Link].

24. Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet. 2013 Jul 11. 93(1):6-18. [QxMD MEDLINE Link].

25. Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 5. 93(6):1108-17. [QxMD MEDLINE Link]. [Full Text].

26. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2-014. 124:4693-4708.

27. Schatz UA, Weiss S, Wenninger S, Schoser B, Muss WH, Bittner RE, et al. Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. Neurology. 2018 Oct 30. 91 (18):e1690-e1694. [QxMD MEDLINE Link].

28. Maclennan DH, Zvaritch E. Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum. Biochim Biophys Acta. 2011 May. 1813(5):948-64. [QxMD MEDLINE Link].

29. Tammaro A, Di Martino A, Bracco A, Cozzolino S, Savoia G, Andria B. Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011 May. 79(5):438-47. [QxMD MEDLINE Link].

30. Zorzato F, Jungbluth H, Zhou H, Muntoni F, Treves S. Functional effects of mutations identified in patients with multiminicore disease. IUBMB Life. 2007 Jan. 59(1):14-20. [QxMD MEDLINE Link].

31. Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O. Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest. 2010 Dec. 120(12):4220-35. [QxMD MEDLINE Link].

32. Duarte ST, 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 Jul. 44(1):102-8. [QxMD MEDLINE Link].

33. Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab. 2008 Feb. 93(2):179-89. [QxMD MEDLINE Link].

34. Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, et al. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May. 13(2):115-24. [QxMD MEDLINE Link]. [Full Text].

35. Carmignac V, Salih MA, Quijano-Roy S, Marchand S, Al Rayess MM, Mukhtar MM. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol. 2007 Apr. 61(4):340-51. [QxMD MEDLINE Link].

36. Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R. Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement. Neuromuscul Disord. 2012 Dec. 22(12):1096-104. [QxMD MEDLINE Link].

37. Bitoun M, Bevilacqua JA, Prudhon B, et al. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol. 2007 Dec. 62(6):666-70. [QxMD MEDLINE Link].

38. Bitoun M, Maugenre S, Jeannet PY, et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005 Nov. 37(11):1207-9. [QxMD MEDLINE Link].

39. Amburgey K, McNamara N, Bennett LR, McCormick ME, Acsadi G, Dowling JJ. Prevalence of congenital myopathies in a representative pediatric united states population. Ann Neurol. 2011 Oct. 70(4):662-5. [QxMD MEDLINE Link].

40. Biancalana V, Beggs AH, Das S, et al. Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet. 2012 May 23. [QxMD MEDLINE Link].

41. Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord. 2010 Apr. 20(4):229-37. [QxMD MEDLINE Link].

42. Kerst B, Mennerich D, Schuelke M, Stoltenburg-Didinger G, von Moers A, Gossrau R. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. Neuromuscul Disord. 2000 Dec. 10(8):572-7. [QxMD MEDLINE Link].

43. Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10. 91(2):365-71. [QxMD MEDLINE Link].

44. Nicot AS, Toussaint A, Tosch V, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep. 39(9):1134-9. [QxMD MEDLINE Link].

45. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 1. 81(14):1205-14. [QxMD MEDLINE Link].

46. Herman DS, Lam L, Taylor MR, Wang L, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16. 366 (7):619-28. [QxMD MEDLINE Link].

47. Laporte J, Guiraud-Chaumeil C, Vincent MC, et al. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet. 1997 Sep. 6(9):1505-11. [QxMD MEDLINE Link].

48. Beggs AH, Byrne BJ, De Chastonay S, Haselkorn T, Hughes I, James ES, et al. A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. Muscle Nerve. 2018 Apr. 57 (4):550-560. [QxMD MEDLINE Link].

49. McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, et al. Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord. 2002 Dec. 12 (10):939-46. [QxMD MEDLINE Link].

50. 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 Feb. 134 (2):206-14. [QxMD MEDLINE Link].

51. Dowling JJ, Gibbs EM, Feldman EL. Membrane traffic and muscle: lessons from human disease. Traffic. 2008 Jul. 9(7):1035-43. [QxMD MEDLINE Link].

52. Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord. 2010 Apr. 20(4):223-8. [QxMD MEDLINE Link].

53. Liewluck T, Lovell TL, Bite AV, Engel AG. Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. Neuromuscul Disord. 2010 Dec. 20(12):801-4. [QxMD MEDLINE Link]. [Full Text].

54. Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG. "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol. 2009 Mar. 117(3):283-91. [QxMD MEDLINE Link].

55. Laing NG, Clarke NF, Dye DE, et al. Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol. 2004 Nov. 56(5):689-94. [QxMD MEDLINE Link].

56. Clarke NF, Ilkovski B, Cooper S, et al. The pathogenesis of ACTA1-related congenital fiber type disproportion. Ann Neurol. 2007 Jun. 61(6):552-61. [QxMD MEDLINE Link].

57. N.F. Clarke, R.L.L. Smith, M. Bahlo, K.N. North. A novel X-linked form of congenital fibre type disproportion. Ann Neurol. 2005. 58:767-772.

58. Clarke NF, Kidson W, Quijano-Roy S, et al. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006 Mar. 59(3):546-52. [QxMD MEDLINE Link].

59. Schara U, Kress W, Bonnemann CG, et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol. 2008 May. 12(3):224-30. [QxMD MEDLINE Link].

60. Clarke NF, Kolski H, Dye DE, et al. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008 Mar. 63(3):329-37. [QxMD MEDLINE Link].

61. Clarke NF, Waddell LB, Sie LT, van Bon BW, McLean C, Clark D, et al. Mutations in TPM2 and congenital fibre type disproportion. Neuromuscul Disord. 2012 Nov. 22(11):955-8. [QxMD MEDLINE Link].

62. Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, et al. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010 Jul. 31(7):E1544-50. [QxMD MEDLINE Link].

63. Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. Neuromuscul Disord. 2009 Feb. 19(2):163-6. [QxMD MEDLINE Link].

64. Pegoraro E, Gavassini BF, Borsato C, et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007 Apr. 17(4):321-9. [QxMD MEDLINE Link].

65. Kudryashova E, Kudryashov D, Kramerova I, Spencer MJ. Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin. J Mol Biol. 2005 Nov 25. 354(2):413-24. [QxMD MEDLINE Link].

66. Schoser BG, Frosk P, Engel AG, Klutzny U, Lochmuller H, Wrogemann K. Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol. 2005 Apr. 57(4):591-5. [QxMD MEDLINE Link].

67. Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord. 2011 Apr. 21(4):237-51. [QxMD MEDLINE Link].

68. Schessl J, Zou Y, McGrath MJ, et al. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest. 2008 Mar. 118(3):904-12. [QxMD MEDLINE Link].

69. Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan. 82(1):208-13. [QxMD MEDLINE Link]. [Full Text].

70. Windpassinger C, Schoser B, Straub V, et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet. 2008 Jan. 82(1):88-99. [QxMD MEDLINE Link].

71. Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2009 Sep. 85(3):338-53. [QxMD MEDLINE Link]. [Full Text].

72. Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). Neuromuscul Disord. 2008 Dec. 18(12):959-61. [QxMD MEDLINE Link].

73. Foroud T, Pankratz N, Batchman AP, et al. A mutation in myotilin causes spheroid body myopathy. Neurology. 2005 Dec 27. 65(12):1936-40. [QxMD MEDLINE Link].

74. Klein A, Jungblath H, Clement E, Lillis S, Abbs S, Munot P, et al. Muscle Magnetic Resonance Imaging in Congenital Myopathies due to Ryanodine Receptor Type 1 Gene Mutations. Arch Neurol. Sep 2011. 68:1171-1179.

75. Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet. 2000 Nov 1. 9(18):2599-608. [QxMD MEDLINE Link].

76. Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology. 2000 Dec 12. 55(11):1689-96. [QxMD MEDLINE Link].

77. Hernandez-Lain A, Husson I, Monnier N, Farnoux C, Brochier G, Lacène E, et al. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins. Eur J Med Genet. 2011 Jan-Feb. 54(1):29-33. [QxMD MEDLINE Link].

78. Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 Nov. 68(5):717-26. [QxMD MEDLINE Link].

79. Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, Tojo M. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology. 2008 Jan 8. 70(2):114-22. [QxMD MEDLINE Link].

80. Hutchinson DO, Charlton A, Laing NG, Ilkovski B, North KN. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. Neuromuscul Disord. 2006 Feb. 16(2):113-21. [QxMD MEDLINE Link].

81. Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar. 72(3):681-90. [QxMD MEDLINE Link]. [Full Text].

82. Hanisch F, Müller T, Dietz A, Bitoun M, Kress W, Weis J. Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. J Neurol. 2011 Jun. 258(6):1085-90. [QxMD MEDLINE Link].

83. Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord. 2011 Apr. 21(4):254-62. [QxMD MEDLINE Link].

84. Zhou H, Jungbluth H, Sewry CA, et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 Aug. 130:2024-36. [QxMD MEDLINE Link].

85. Brooke MH, Engel WK. The histographic analysis of human muscle biopsies with regard to fiber types. 4. Children's biopsies. Neurology. 1969 Jun. 19(6):591-605. [QxMD MEDLINE Link].

86. Donner K, Ollikainen M, Ridanpaa M, et al. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord. 2002 Feb. 12(2):151-8. [QxMD MEDLINE Link].

87. Engel AG, Gomez MR, Groover RV. Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. Mayo Clin Proc. 1971 Oct. 46(10):666-81. [QxMD MEDLINE Link].

88. Engel WK. Mitochondrial aggregates in muscle disease. J Histochem Cytochem. 1964 Jan. 12:46-8. [QxMD MEDLINE Link].

89. Goebel HH. Congenital myopathies at their molecular dawning. Muscle Nerve. 2003 May. 27(5):527-48. [QxMD MEDLINE Link].

90. Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998 Aug. 19(4):402-3. [QxMD MEDLINE Link].

91. Griggs RC, Mendell JR, Miller RG. Congenital myopathies. Evaluation and Treatment of Myopathies. Philadelphia: FA Davis Co; 1995. 211-46.

92. 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 Feb. 134(2):206-14. [QxMD MEDLINE Link].

93. Laing NG, Wilton SD, Akkari PA, et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995 Jan. 9(1):75-9. [QxMD MEDLINE Link].

94. Loke J, MacLennan DH. Malignant hyperthermia and central core disease: disorders of Ca2+ release channels. Am J Med. 1998 May. 104(5):470-86. [QxMD MEDLINE Link].

95. McEntagart M, Parsons G, Buj-Bello A, et al. Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord. 2002 Dec. 12(10):939-46. [QxMD MEDLINE Link].

96. North K. Congenital myopathies. Engel AG, Franzini-Armstrong C, eds. Myology. 3rd ed. New York, NY: McGraw Hill; 2004. 1473-1533.

97. Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999 Oct. 23(2):208-12. [QxMD MEDLINE Link].

98. Pelin K, Hilpela P, Donner K, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A. 1999 Mar 2. 96(5):2305-10. [QxMD MEDLINE Link].

99. Quane KA, Healy JM, Keating KE, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993 Sep. 5(1):51-5. [QxMD MEDLINE Link].

100. Shuaib A, Paasuke RT, Brownell KW. Central core disease. Clinical features in 13 patients. Medicine (Baltimore). 1987 Sep. 66(5):389-96. [QxMD MEDLINE Link].

101. Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol. 2003 Oct. 54(4):494-500. [QxMD MEDLINE Link].

102. Vicart P, Caron A, Guicheney P, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet. 1998 Sep. 20(1):92-5. [QxMD MEDLINE Link].

103. Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. Neuromuscul Disord. 2000 Jun. 10(4-5):299-306. [QxMD MEDLINE Link].

104. Zhang Y, Chen HS, Khanna VK, et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993 Sep. 5(1):46-50. [QxMD MEDLINE Link].

105. Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, et al. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet A. 2012 Apr. 158A(4):772-8. [QxMD MEDLINE Link].

106. Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscul Disord. 2013 May. 23(5):432-6. [QxMD MEDLINE Link].

Matthew Harmelink, MD Associate Professor of Neuology, Heidi-Marie Baumann Chair in Child Neurology, Section Chief and Medical Director, Child Neurology Section, Director, Pediatric Neuromuscular Program, Co-Director, Neurogenetics Clinic, Medical College of Wisconsin and Children’s Hospital of Wisconsin

Matthew Harmelink, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Three Gaits, Inc (Non-profit therapeutic riding stable)<br/>Serve(d) as a speaker or a member of a speakers bureau for: Biogen<br/>Received research grant from: CureSMA<br/>Received income in an amount equal to or greater than $250 from: Biogen (Consultant, Advisory Board); Avexis (Advisory Board); PTC (Advisory Board); Sarepta (Advisory Board); Connected Research & Consulting (Consulting); Optio Biopharma Solutions, LLC (Consulting).

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock (managed by a financial services company) in healthcare companies including Allergan, Cellectar Biosciences, CVS Health, Danaher Corp, Johnson & Johnson.

Glenn Lopate, MD Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University in St Louis School of Medicine; Consulting Staff, Department of Neurology, Barnes-Jewish Hospital

Glenn Lopate, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert J Baumann, MD Professor of Neurology and Pediatrics, Department of Neurology, University of Kentucky College of Medicine

Robert J Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, Child Neurology Society

Disclosure: Nothing to disclose.

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