Prenatal diagnosis of congenital myopathies and muscular dystrophies

Clinical Genetics

Volumn 90, Issue 3, 2016, Pages 199-210

  Massalska, D ^a   Zimowski, J G ^b   Bijok, J ^a   Kucinska Chahwan A ^a   Lusakowska A ^c   Jakiel, G ^a   Roszkowski, T ^a  

^a MEDICAL CENTER FOR POSTGRADUATE EDUCATION   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Duchenne and Becker muscular dystrophy; Emery Dreifuss muscular dystrophy; facioscapulohumeral muscular dystrophy; limb girdle muscular dystrophy; myotonic dystrophy; myotubular myopathy; nemaline myopathy

Indexed keywords

BECKER MUSCULAR DYSTROPHY; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; DUCHENNE MUSCULAR DYSTROPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENETIC COUNSELING; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCULAR DYSTROPHY; MYOPATHY; MYOTONIC DYSTROPHY; NEMALINE MYOPATHY; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW;

EID: 84983386903     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12801     Document Type: Review

References (169)

1. Cardamone M, Darras BT, Ryan MM. Inherited myopathies and muscular dystrophies. Semin Neurol 2008: 28: 250–259.
2. Romero NB, Monnier N, Viollet L et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain 2003: 126: 2341–2349.
3. Colombo I, Scoto M, Manzur AY et al. Congenital myopathies. Natural history of a large pediatric cohort. Neurology 2015: 84: 28–35.
4. Verhaert D, Richards K, Rafael-Fortney JA, Raman SV. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging 2011: 4 (1): 67–76.
5. North KN, Wang CH, Clarke N et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord 2014: 24 (2): 97–116.
6. Laporte J, Biancalana V, Tanner SM et al. MTM1 mutations in X-linked myotubular myopathy. Hum Mutat 2000: 15: 393–409.
7. Kang PB, Morrison L, Iannaccone ST et al. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular and Electrodiagnostic Medicine. Neurology 2015: 84 (13): 1369–1378.
8. Grimm T, Kress W, Meng G, Muller CR. Risk assessment and genetic counseling in families with Duchenne muscular dystrophy. Acta Myol 2012: 31 (3): 179–183.
9. Galluzzi G, Deidda G, Cacurri S et al. Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): application to family studiem for a correct genetic advice and a reliable prenatal diagnosis of the disease. Neuromuscul Disord 1999: 9 (3): 190–198.
10. Satre V, Monnier N, Devillard F, Amblard F, Lunardi J. Prenatal diagnosis of DMD in a female fetus affected by Turner syndrome. Prenat Diagn 2004: 24 (11): 913–917.
11. Quan F, Janas J, Toth–Fejel S, Johnson DB, Wolford JK, Popovich BV. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 1997: 60: 160–165.
12. Trippe H, Wieczorek S, Kotting J, Kress W, Schara U. Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of Duchenne muscular dystrophy. Neuropediatrics 2014: 45 (5): 333–335.
13. Abbs S, Tuffery–Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller CR. Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul Disord 2010: 20: 422–427.
14. Helderman–van den Enden AT, Madan K, Breuning MH et al. An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy. Eur J Hum Genet 2013: 21 (1): 21–26.
15. Kim UK, Chae JJ, Lee SH, Lee CC, Namkoong Y. Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis. Mol Cells 2002: 13 (3): 385–388.
16. Royal College of Obstetricians and Gynaecologists. Amniocentesis and chorionic villus sampling. RCOG, 2010.
17. Kent A. Second trimester termination of pregnancy. Rev Obstet Gynecol 2011: 4 (2): 95.
18. Miura K, Higashijima A, Shimada T et al. Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders. J Hum Genet 2011: 56 (4): 296–299.
19. van den Oever JM, Minderhout IJ, Harteveld CL et al. A novel targeted approach for noninvasive detection of paternally inherited mutations in maternal plasma. J Mol Diagn 2015: 17 (5): 590–596.
20. Zeevi DA, Altarescu G, Weinberg-Shukron A et al. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations. J Clin Invest 2015: 125 (10): 3757–3765.
21. Kasperski SB, Brennan AM, Corteville JE et al. Utility of fetal muscle biopsy for diagnosis of nemaline myopathy. Fetal Diagn Ther 2008: 24 (4): 400–404.
22. Vainzof M, Richard P, Herrmann R et al. Prenatal diagnosis in laminie α2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscul Disord 2005: 15 (9–10): 588–594.
23. Brockington M, Brown SC, Lampe A et al. Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Prenat Diagn 2004: 24 (6): 440–444.
24. Bonifazi E, Gullotta F, Vallo L et al. Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I. Clin Chem 2006: 2 (52): 319–322.
25. Donker M, Eijckelhof BH, Tan GM, de Vries JI. Serial postural and motor assessment of fetal akinesia deformation sequence (FADS). Early Hum Dev 2009: 85 (12): 785–790.
26. Karadeniz N, Zenciroglu A, Gurer YK, Senbil N, Karadeniz Y, Topalolu H. De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome. Am J Med Genet 2002: 109 (1): 67–69.
27. Evila A, Arumilli M, Udd B, Hackman P. Targeted next-generation sequencing assay for detection of mutations in primary myopathies. Neuromuscul Disord 2016: 26: 7–15.
28. Piluso G, Dionisi M, Del Vecchio BF et al. Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders. Clin Chem 2011: 57 (11): 1584–1596.
29. Nguyen K, Putoux A, Busa T et al. Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history. Clin Genet 2015: 87: 488–491.
30. Todd EJ, Yau KS, Ong R et al. Next generation sequencing in a large kohort of patients presenting with neuromuscular disease before or at birth. Orphanet J Rare Dis 2015: 10: 148.
31. Hall JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet 2014: 57 (8): 464–472.
32. Zaki M, Boyd PA, Impey L, Roberts A, Chamberlain P. Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. Ultrasound Obstet Gynecol 2007: 29: 284–288.
33. Esplin MS, Hallam S, Farrington PF, Nelson L, Byrne J, Ward K. Myotonic dystrophy is a significant cause of idiopathic polyhydramnios. Am J Obstet Gynecol 1998: 179 (4): 974–977.
34. Mashiach R, Rimon E, Achiron R. Tent mouth as a presenting symptom of congenital myotonic dystrophy. Ultrasound Obstet Gynecol 2002: 20: 312–313.
35. Rudnik-Schoneborn S, Zerres K. Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature. Eur J Obstet Gynecol Reprod Biol 2004: 114: 44–53.
36. Dufour P, Berard J, Vinatier D et al. Myotonic dystrophy and pregnancy. A report of two cases and review of the literature. Eur J Obstet Gynecol Reprod Biol 1997: 72 (2): 159–164.
37. Dohrn N, Le VQ, Petersen A et al. ECEL1 mutation causes fetal arthrogryposis multiplex congenita. Am J Med Genet A 2015: 167A (4): 731–743.
38. Blin G, Rabbe A, Ansquer Y, Meghdiche S, Floch-Tudal C, Mandelbrot L. First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. Ultrasound Obstet Gynecol 2005: 26 (3): 297–299.
39. Mulder EJ, Nikkels PG, Visser GH. Fetal akinesia deformation sequence: behavioural development in a case of congenital myopathy. Ultrasound Obstet Gynecol 2001: 18 (3): 253–257.
40. Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. Neuromuscul Disord 2000: 10: 299–306.
41. Ilkovski B, Cooper ST, Nowak K et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletal action gene. Am J Hum Genet 2001: 68 (6): 1333–1343.
42. Lehtokari VL, Kiiski K, Sandaradura SA et al. Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat 2014: 35 (12): 1418–1426.
43. Yonath H, Reznik-Wolf H, Berkenstadt M et al. Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. Prenat Diagn 2012: 32 (1): 70–74.
44. Agrawal PB, Strickland CD, Midgett C et al. Heterogeneity of nemaline myopathy cases with skeletal muscle α-actin gene mutations. Ann Neurol 2004: 56 (1): 86–96.
45. Ravenscroft G, Miyatake S, Lehtokari VL et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 2013: 93 (1): 6–18.
46. Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG. Clinical utility gene card for: nemaline myopathy – update 2015. Eur J Hum Genet 2015: 23:e1–e5.
47. Longo G, Russo S, Novelli G, Sangiuolo F, D'Apice MR. Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis. Clin Genet 2016: 89 (1): 93–98.
48. Hernandez-Lain A, Husson I, Monnier N et al. De novo RYR1 heterozygous mutation (14898 T) causing lethal core-rod myopathy in twins. Eur J Med Genet 2011: 54 (1): 29–33.
49. Hanisch F, Muller T, Dietz A et al. Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. J Neurol 2011: 258 (6): 1085–1090.
50. Romero NB. Centronuclear myopathies: a widening concept. Neuromuscul Disord 2010: 20 (4): 223–228.
51. Bonnemann CG, Wang CH, Quijano-Roy S et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 2014: 24 (4): 289–311.
52. Bertini E, D'Amico A, Gualandi F, Petrini S. Congenital muscular dystrophies: a brief review. Semin Pediatr Neurol 2011: 18 (4): 277–288.
53. Saito K. Prenatal diagnosis of Fukuyama congenital muscular dystrophy. Prenat Diagn 2006: 26 (5): 415–417.
54. Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am J Med Genet 2004: 127A (1): 54–57.
55. Ferlini A, Neri M, Gualandi F. The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. Neuromuscul Disord 2013: 23 (1): 4–14.
56. Tuffery-Giraud S, Beroud C, Leturcq F et al. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationalwide knowledgebase. Hum Mutat 2009: 30 (6): 934–945.
57. Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet 1935: 31 (3): 317–351.
58. Lee T, Takeshima Y, Kusunoki N et al. Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. J Hum Genet 2014: 59 (1): 46–50.
59. Heatwole C, Johnson N, Bode R et al. Patient-reported impact of symptoms in myotonic dystrophy type 2 (PRISM-2). Neurology 2015: 85 (24): 2136–2146.
60. Martorell L, Cobo AM, Baiget M, Naudo M, Poza JJ, Parra J. Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families. Prenat Diagn 2007: 27 (1): 68–72.
61. Brook JD, McCurrach ME, Harley HG et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992: 68 (4): 799–808.
62. Barcelo JM, Mahadevan MS, Tsilfidis C, MacKenzie AE, Korneluk RG. Intergenerational stability of the myotonic dystrophy protomutation. Hum Mol Genet 1993: 2 (6): 705–709.
63. Lunt PW, Harper PS. Genetic counseling in facioscapulohumeral muscular dystrophy. J Med Genet 1991: 28 (10): 655–664.
64. Lin F, Wang ZQ, Lin MT, Murong SX, Wang N. New insights into genotype-phenotype correlations in Chinese facioscapulohumeral muscular dystrophy: a retrospective analysis of 178 patients. Chin Med J (Engl) 2015: 128 (13): 1707–1713.
65. Sakellariou P, Kekou K, Fryssira H et al. Mutation spectrum and phenotypic manifestation in FSHD Greek patients. Neuromuscul Disord 2012: 22 (4): 339–349.
66. Tonini MM, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello R, Zatz M. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul Disord 2004: 14 (1): 33–38.
67. Goto K, Nishino I, Hayashi YK. Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A. J Med Genet 2004: 41 (1): e12.
68. van Deutekom JC, Wijmenga C, van Tienhoven EA et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993: 2 (12): 2037–2042.
69. Larsen M, Rost S, El Hajj N et al. Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. Eur J Hum Genet 2015: 23 (6): 808–816.
70. Tan D, Yang H, Yuan Y et al. Phenotype-genotype analysis of Chinese patients with early-onset LMNA-related muscular dystrophy. PLoS One 2015: 10 (6): e0129699.
71. Sarkozy A, Windpassinger C, Hudson J et al. Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene. Eur J Hum Genet 2011: 19 (10): 1038–1044.
72. Brown CA, Scharner J, Felice K et al. Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. J Hum Genet 2011: 56 (8): 589–594.
73. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014: 33 (1): 1–12.
74. Tremolizzo L, Galbussera A, Tagliabue E et al. An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report. Neurol Sci 2007: 28 (6): 339–341.
75. Nadaj-Pakleza A, Richard P, Lusakowska A et al. Oculopharyngeal muscular dystrophy: phenotypic and genetic characteristics of 9 Polish patients. Neurol Neurochir Pol 2009: 43 (2): 113–120.
76. Robinson DO, Hammans SR, Read SP, Sillibourne J. Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism. Hum Genet 2005: 116 (4): 267–271.
77. Garibaldi M, Pennisi EM, Bruttini M et al. Dropped-head in recessive oculopharyngeal muscular dystrophy. Neuromuscul Disord 2015: 25 (11): 869–872.
78. Darin N, Tulinius M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord 2000: 10 (1): 1–9.
79. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009: 132: 3175–3186.
80. Theadom A, Rodrigues M, Roxburgh R et al. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology 2014: 43 (3–4): 259–268.
81. Marttila M, Lehtokavi VL, Marston S et al. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat 2014: 35 (7): 779–790.
82. Ryan MM, Schnell C, Strickland CD et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001: 50 (3): 312–320.
83. Johnston JJ, Kelley RI, Crawford TO et al. A novel nemaline myopathy in the Amish caused by a mutation troponin T1. Am J Hum Genet 2000: 67 (4): 814–821.
84. Gommans IM, Davis M, Saar K et al. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. Brain 2003: 126: 1545–1551.
85. Sambuughin N, Yau KS, Olive M et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010: 87 (6): 842–847.
86. Gupta VA, Ravenscroft G, Shaheen R 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: 93: 1108–1117.
87. Yuen M, Sandaradura SA, Dowling JJ et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014: 124 (11): 4693–4708.
88. 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: 54 (4): 494–500.
89. Tajsharghi H, Oldfors A, Macleod DP, Swash M. Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. Neurology 2007: 68 (12): 962.
90. Piteau SJ, Rossiter JP, Smith RG, MacKenzie JJ. Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. Pediatr Neurol 2014: 51 (2): 192–197.
91. Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord 2010: 20 (4): 238–240.
92. Scacheri PC, Hoffman EP, Fratkin JD et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 2000: 55 (11): 1689–1696.
93. Monnier N, Romero NB, Lerale J et al. 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: 9 (18): 2599–2608.
94. Romero NB, Lehtokavi V, Quijano-Roy S et al. Core-rod myopathy caused by mutations in the nebulin gene. Neurology 2009: 73 (14): 1159–1161.
95. Jungbluth H, Muller CR, Halliger-Keller B et al. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 2002: 59 (2): 284–287.
96. Ferreiro A, Quijano-Roy S, Pichereau C et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002: 71 (4): 739–749.
97. Carmignac V, Salih MA, Quijano-Roy S et al. C-terminal titin deletions cause a novel early-onset myopathy with fetal cardiomyopathy. Ann Neurol 2007: 61 (4): 340–351.
98. Jungbluth H, Wallgren-Pettersson C, Laporte J. Centronuclear (myotubular) myopathy. Orphanet J Rare Dis 2008: 3: 26.
99. Bitoun M, Bevilacqua JA, Prudhon B et al. Dynamin 2 mutations cause a sporadic centronuclear myopathy with neonatal onset. Ann Neurol 2007: 62 (6): 666–670.
100. 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: 39 (9): 1134–1139.
101. 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.
102. Laing NG, Clarke NF, Dye D et al. Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol 2004: 56 (5): 689–694.
103. Clarke NF, Waddell LB, Cooper ST et al. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat 2010: 31 (7): E1544–E1550.
104. Clarke NF, Kidson W, Quijano-Roy S et al. SEPN1 associated with congenital fibre type disproportion and insulin resistance. Ann Neurol 2006: 59 (3): 546–552.
105. Butterfield RJ, Foley AR, Dastgir J et al. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. Hum Mutat 2013: 34 (11): 1558–1567.
106. Yis U, Uyanik G, Heck PB et al. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscul Disord 2011: 21 (1): 20–30.
107. MacLeod H, Pytel P, Wollmann R et al. A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord 2007: 17 (4): 285–289.
108. Saredi S, Ardissone A, Ruggieri A et al. Novel POMGnT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. J Neurol Sci 2012: 318 (1–2): 45–50.
109. Balci B, Uyanik G, Dincer P et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord 2005: 15 (4): 271–275.
110. van Reeuwijk J, Janssen M, van den Elzen C et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 2005: 42 (12): 907–912.
111. Meilleur KG, Zukosky K, Medne L et al. Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations. J Neuropathol Exp Neurol 2014: 73 (5): 425–441.
112. Moghadaszadeh B, Petit N, Jaillard C et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 2001: 29 (1): 17–18.
113. Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet 2012: 91 (6): 1135–1143.
114. Xiong H, Tan D, Wang S et al. Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. Clin Genet 2015: 87 (3): 233–243.
115. Stevens E, Carss KJ, Cirak S et al. Mutations in B3GALT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet 2013: 92 (3): 354–365.
116. Carss KJ, Stevens E, Foley AR et al. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girgle muscular dystrophies associated with hypoglycosylation of α-dystroclycan. Am J Hum Genet 2013: 93 (1): 29–41.
117. Manzini MC, Tambunan DE, Hill RS et al. Exome sequencing and functional validation in zebrafish identify CTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012: 91 (3): 541–547.
118. Jae LT, Raaben M, Riemersma M et al. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science 2013: 340 (6131): 479–483.
119. Buysse K, Riemersma M, Powell G et al. Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 2013: 22 (9): 1746–1754.
120. Hara Y, Balci-Hayta B, Yoshida-Moriguchi T et al. A dystroglycan mutation associated with limb-girgle muscular dystrophy. N Engl J Med 2011: 364 (10): 939–946.
121. Liang WC, Zhu W, Mitsuhashi S et al. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skelet Muscle 2015: 5: 29.
122. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987: 51 (6): 919–928.
123. Raheem O, Olufemi S-E, Bachinski LL et al. Mutant (CCTG)n expansion causes abnormal expression of zinc finger 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol 2010: 177 (6): 3025–3036.
124. Hewitt JE, Lyle R, Clark LN et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 1994: 3 (8): 1287–1295.
125. Reilich P, Krause S, Schramm N et al. A novel mutation in myotylin gene (MYOT) causes a severe form of limb girgle muscular dystrophy 1A (LGMD1A). J Neurol 2011: 258 (8): 1437–1444.
126. Muchir A, Bonne G, van der Kooi AJ et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girgle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000: 9 (9): 1453–1459.
127. Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol 2011: 101: 135–142.
128. Sarparanta J, Jonson PH, Golzio C et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girgle muscular dystrophy. Nat Genet 2012: 44 (4): 450–455.
129. Cetin N, Balci-Hayta B, Gundesli H et al. A novel desmin mutation leading to autosomal recessive limb-girgle muscular dytrophy distinct histopathological outcomes compared with desminopathies. J Med Genet 2013: 50 (7): 437–443.
130. Torella A, Fanin M, Mutarelli M et al. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One 2013: 8 (5): e63536.
131. Vieira NM, Naslavsky MS, Licinio L et al. A defect in the RNA-processing protein HNRPDL causes limb-girgle muscular dystrophy 1G (LGMD1G). Hum Mol Genet 2014: 23 (15): 4103–4110.
132. Ramos E, Pardo S, Mas Rodriguez MF, Velez J. Limb-girgle muscular dystrophy type 2A resulting from c. C479G and c. G1818A mutations in the calpain-3 gene. J Clin Neuromuscul Dis 2015: 17 (2): 59–62.
133. Nguyen K, Bassez G, Krahn M et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007: 64 (8): 1176–1182.
134. Noguchi S, McNally EM, Ben Othmane K et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995: 270 (5237): 819–822.
135. Hackman P, Juvonen V, Sarparanta J et al. Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. Muscle Nerve 2005: 31 (2): 199–204.
136. Lim LE, Duclos F, Broux O et al. Beta-sarcoglycan: characterization and role in limb-girgle muscular dystrophy linked to 4q12. Nat Genet 1995: 11 (3): 257–265.
137. Piccolo F, Jeanpierre M, Leturcq F et al. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet 1996: 5 (12): 2019–2022.
138. Moreira ES, Wiltshire TJ, Faulkner G et al. Limb-girgle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000: 24 (2): 163–166.
139. Nectoux J, de Cid R, Baulande S et al. Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively paralel sequencing. Eur J Hum Genet 2015: 23 (7): 929–934.
140. Brockington M, Blake DJ, Prandini P et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001: 69 (6): 1198–1209.
141. Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 2005: 64 (4): 636–642.
142. Hicks D, Sarkozy A, Muelas N et al. A founder mutation in anoctamin 5 is a major cause of limb-girgle muscular dystrophy. Brain 2011: 134: 171–182.
143. Puckett RL, Moore SA, Winder TL et al. Further evidence of fukutin mutations as a cause of childhood onset limb-girgle muscular dystrophy without mental retardation. Neuromuscul Disord 2009: 19 (5): 352–356.
144. Saredi S, Gibertini S, Ardissone A et al. A fourth case of POMT2-related limb girgle muscle dystrophy wth mild reduction of alpha-dystroglycan glycosylation. Eur J Paediatr Neurol 2014: 18 (3): 404–408.
145. Clement EM, Godfrey C, Tan J et al. Mild POMGnT1 mutations underlie a novel limb-girgle muscular dystrophy variant. Arch Neurol 2008: 65 (1): 137–141.
146. Gundesli H, Talim B, Korkusuz P et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girgle muscular dystrophy. Am J Hum Genet 2010: 87 (6): 834–841.
147. Bogershausen N, Shahrzad N, Chong JX et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girgle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet 2013: 93 (1): 181–190.
148. Roscioli T, Kamsteeg EJ, Buysse K et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nat Genet 2012: 44 (5): 581–585.
149. Preisler N, Lukacs Z, Vinge L et al. Late-onset Pompe disease is prevalent in unclassified limb-girgle muscular dystrophies. Mol Genet Metab 2013: 110 (3): 287–289.
150. Chardon JW, Smith AC, Woulfe J et al. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet 2015: 88 (6): 558–564.
151. Kuwata T, Matsubara S, Ohkusa T, Yada Y, Suzuki M. Decreased fetal movement prompts investigation of prenatal/neonatal nemaline myopathy: the possible merit of fetal movement count. J Obstet Gynaecol Res 2011: 37 (7): 921–925.
152. Lammens M, Moerman P, Fryns JP et al. Fetal akinesia sequence caused by nemaline myopathy. Neuropediatrics 1997: 28 (2): 116–119.
153. Vardon D, Chau C, Sigodi S, Figarella-Branger D, Boubli L. Congenital rapidly fatal form of nemaline myopathy with fetal hydrops and arthrogryposis. A case report and review. Fetal Diagn Ther 1998: 13 (4): 244–249.
154. Lacson AG, Donaldson G, Barness EG, Ranells JD, Pomerance HH. Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures. Pediatr Pathol Mol Med 2002: 21 (6): 569–584.
155. Tamblyn JA, Morris RK, Cox P, Hargitai B, Kilby MD. The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. Prenat Diagn 2013: 33 (11): 1102–1104.
156. Bharucha-Goebel DX, Santi M, Medne L et al. Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology 2013: 80 (17): 1584–1589.
157. Chen CP, Lin SP, Chern SR et al. Prenatal diagnosis of X-linked myotubular myopathy. Prenat Diagn 2010: 30 (2): 177–179.
158. Joseph M, Pai GS, Holden KR, Heerman G. X-linked myotubular myopathy: clinical observations in ten additional cases. Am J Med Genet 1995: 59 (2): 168–173.
159. Bigner DR, Rijhsinghani A, Yankowitz J. Congenital fiber-type disproportion presenting antenatally with clubfoot and hydramnios. Gynecol Obstet Invest 2000: 49 (4): 275–276.
160. Takada K, Nakamura H, Suzumori K, Ishikawa T, Sugiyama N. Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD). Acta Neuropathol 1987: 74 (3): 300–306.
161. Hehr U, Uyanik G, Gross C et al. Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Neurogenetics 2007: 8 (4): 279–288.
162. Millichap JJ, Nguyen T, Ryan ME. Prenatal MRI of muscle-eye-brain disease. Neurology 2010: 74 (22): e101.
163. Brasseur-Daudruy M, Vivier PH, Ickowicz V, Eurin D, Verspyck E. Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound. Pediatr Radiol 2012: 42 (4): 488–490.
164. Vohra N, Ghidini A, Alvarez M, Lockwood C. Walker-Warburg syndrome: prenatal ultrasound findings. Prenat Diagn 1993: 13 (7): 575–579.
165. Strigini F, Valleriani A, Cecchi M et al. Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome. Ultrasound Obstet Gynecol 2009: 33 (3): 363–365.
166. Yazicioglu HF, Ocak Z. Walker-Warburg syndrome with persistent hyperplastic vitreous detected by prenatal ultrasonography. Ultrasound Obstet Gynecol 2010: 35 (2): 247–249.
167. Vajsar J, Baskin B, Swoboda K, Biggar DW, Schachter H, Ray PN. Walker-Warburg syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Neuromuscul Disord 2008: 18 (8): 675–677.
168. Shen O, Zuckerman S, Cohen P, Rabinowitz R. Prenatal sonographic diagnosis of retinal nonattachment. J Ultrasound Med 2014: 33 (6): 1095–1097.
169. Stratton RF, Patterson RM. DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis. Prenat Diagn 1993: 13 (11): 1027–1030.