The challenge of next generation sequencing in the context of neuromuscular diseases

Journal of Neuromuscular Diseases

Volumn 1, Issue 2, 2014, Pages 135-149

  Lek, Monkol ^a,b,c,d,e   MacArthur, Daniel ^a,b,c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF SYDNEY   (Australia)

^e Institute for Neuroscience and Muscle Research   (Australia)

Author keywords

Exome sequencing; Muscle disease; Neurogenetics; Next generation sequencing

Indexed keywords

GENE; GENE CLUSTER; GENE IDENTIFICATION; GENETIC VARIABILITY; GENOME ANALYSIS; GENOMICS; HUMAN; INDEL MUTATION; MUTATIONAL ANALYSIS; MYH2 GENE; MYH7 GENE; NEUROMUSCULAR DISEASE; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; REVIEW; WHOLE EXOME SEQUENCING;

EID: 84932197697     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-140032     Document Type: Review

References (102)

1. Jungmann, R., Avendaño, M. S., Woehrstein, J. B., Dai, M., Shih, W. M., and Yin, P. Multiplexed 3D cellular super-resolution imaging with DNA-PAINT and Exchange-PAINT. Nat Methods. 2014; 11:313-318.
2. Zhao, M., Wang, P., Guan, Y., Cen, Z., Zhao, X., Christner, M., et al. Open-Source Genomic Analysis of Shiga-Toxin–Producing. N Engl J Med. 2011; 365:718-724.
3. Sarparanta, J., Jonson, P. H., Golzio, C., Sandell, S., Luque, H., Screen, M., et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet. 2012; 44:450-455, S1-S2.
4. Couthouis, J., Raphael, A. R., Siskind, C., Findlay, A. R., Buenrostro, J. D., Greenleaf, W. J., et al. Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. Neuromuscul Disord. 2014; 24:431-435.
5. Harms, M. B., Sommerville, R. B., Allred, P., Bell, S., Ma, D., Cooper, P., et al. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol. 2012; 71:407-416.
6. Torella, A., Fanin, M., Mutarelli, M., Peterle, E., Del Vecchio Blanco, F., Rispoli, R., et al. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One. 2013; 8: e63536.
7. Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., et al. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet. 2014:1-8.
8. Klar, J., Sobol, M., Melberg, A., Mäbert, K., Ameur, A., Johansson, A. C. V., et al. Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum Mutat. 2013; 34:572-577.
9. Lemmers, R. J. L. F., Tawil, R., Petek, L. M., Balog, J., Block, G. J., Santen, G. W. E., et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012; 44:1370-1374.
10. Scionti, I., Greco, F., Ricci, G., Govi, M., Arashiro, P., Ver-celli, L., et al. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapu-lohumeral muscular dystrophy. Am J Hum Genet. 2012; 90:628-635.
11. Ravenscroft, G., Thompson, E. M., Todd, E. J., Yau, K. S., Kresoje, N., Sivadorai, P., et al. Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. Neuromuscul Disord. 2013; 23:165-169.
12. Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., 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; 93:1108-1117.
13. Wang, Z., Gerstein, M., and Snyder M. RNA-Seq: A revolutionary tool for transcriptomics. Nat Rev Genet. 2009; 10:57-63.
14. Bamshad, M. J., Ng, S. B., Bigham, A. W., Tabor, H. K., Emond, M. J., Nickerson, D. A., et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011; 12:745-755.
15. Hawkins, R. D., Hon, G. C., and Ren, B. Next-generation genomics: An integrative approach. Nat Rev Genet. 2010; 11:476-486.
16. Metzker, M. L. Sequencing technologies – the next generation. Nat Rev Genet. 2010; 11:31-46.
17. Goldstein, D. B., Allen, A., Keebler, J., Margulies, E. H., Petrou, S., Petrovski, S., et al. Sequencing studies in human genetics: Design and interpretation. Nat Rev Genet. 2013; 14:460-470.
18. MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014; 508:469-476.
19. McCarthy, D. J., Humburg, P., Kanapin, A., Rivas, M. A., Gaulton, K., Cazier, J., et al. Choice of transcripts and software has a large effect on variant annotation. Genome Med. 2014; 6:26.
20. O’Rawe, J., Jiang, T., Sun, G., Wu, Y., Wang, W., Hu, J., et al. Low concordance of multiple variant-calling pipelines: Practical implications for exome and genome sequencing. Genome Med. 2013; 5:28.
21. Rehm, H. L., Bale, S. J., Bayrak-Toydemir, P., Berg, J. S., Brown, K. K., Deignan, J. L., et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013; 15:733-747.
22. Vasli, N., and Laporte, J. Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders. Acta Neuropathol. 2013; 125:173-185.
23. Matsuura, T., Kurosaki, T., Omote, Y., Minami, N., Hayashi, Y. K., Nishino, I., et al. Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy. J Hum Genet. 2013; 58:564-565.
24. McDonald, K. K., Stajich, J., Blach, C., Ashley-Koch, A. E., and Hauser M. A. Exome analysis of two limb-girdle muscular dystrophy families: Mutations identified and challenges encountered. PLoS One. 2012; 7: e48864.
25. Böhm, J., Vasli, N., Malfatti, E., Le Gras, S., Feger, C., Jost, B., et al. An integrated diagnosis strategy for congenital myopathies. PLoS One. 2013; 8: e67527.
26. Dias, C., Sincan, M., Cherukuri, P. F., Rupps, R., Huang, Y., Briemberg, H., et al. An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat. 2012; 33:614-626.
27. Chen, Z., Wang, J.-L., Tang, B.-S., Sun, Z.-F., Shi, Y.T., Shen, L., et al. Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders. Neurobiol Aging. 2013; 34:2442.e11-7.
28. Vasli, N., Böhm, J., Le Gras, S., Muller, J., Pizot, C., Jost, B., et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol. 2012; 124:273-283.
29. Jun, G., Flickinger, M., Hetrick, K. N., Romm, J. M., Doheny, K. F., Abecasis, G. R., et al. Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. Am J Hum Genet. 2012; 91:839-848.
30. Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature. 2014; 506:185-190.
31. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. a., R., Bender, D., et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007; 81:559-575.
32. Anderson, C. A., Pettersson, F. H., Clarke, G. M., Cardon, L. R., Morris, A. P., and Zondervan, K. T. Data quality control in genetic case-control association studies. Nat Protoc. 2010; 5:1564-1573.
33. Abecasis, G. R., Auton, A., Brooks, L. D., DePristo, M. A., Durbin, R. M., Handsaker, R. E., et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012; 491:56-65.
34. Odgerel, Z., van der Ven, P. F. M., Fürst, D. O., Goldfarb, L. G. DNA sequencing errors in molecular diagnostics of fil-amin myopathy. Clin Chem Lab Med. 2010; 48:1409-1414.
35. Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013; 369:1502-1511.
36. Spiegel, R., Saada, A., Halvardson, J., Soiferman, D., Shaag, A., Edvardson, S., et al. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Eur J Hum Genet. 2014; 22:902-906.
37. Raducu, M., Baets, J., Fano, O., Van Coster, R., and Cruces J. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. Eur J Hum Genet. 2012; 20:945-52.
38. MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012; 335:823-828.
39. Tuffery-Giraud, S., Béroud, C., Leturcq, F., Yaou R Ben, Hamroun, D., Michel-Calemard, L., et al. Genotype-phenotype analysis in 2,405 patients with a dystrophinopa-thy using the UMD-DMD database: A model of nationwide knowledgebase. Hum Mutat. 2009; 30:934-945.
40. Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014; 511:344-347.
41. Plagnol, V., Curtis, J., Epstein, M., Mok, K. Y., Steb-bings, E., Grigoriadou, S., et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics. 2012; 28:2747-2754.
42. Fromer, M., Moran, J. L., Chambert, K., Banks, E., Bergen, S. E., Ruderfer, D. M., et al. Discovery and statisticalgenotypingofcopy-numbervariationfromwhole-exome sequencing depth. Am J Hum Genet. 2012; 91: 597-607.
43. Gymrek, M., Golan, D., Rosset, S., and Erlich Y. lobSTR: A short tandem repeat profiler for personal genomes. Genome Res. 2012; 22:1154-1162.
44. Hancks, D. C., and Kazazian, H. H. Active human retro-transposons: Variation and disease. Curr Opin Genet Dev. 2012; 22:191-203.
45. Stewart, C., Kural, D., Strömberg, M. P., Walker J. A., Konkel, M. K., Stütz, A. M., et al. A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet. 2011; 7: e1002236.
46. Brook, J. D., McCurrach, M. E., Harley, H. G., Buckler, a. J., Church, D., and Aburatani, H., 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; 69:385.
47. Liquori, C. L., Ricker, K., Moseley, M. L., Jacobsen, J. F., Kress, W., Naylor, S. L., et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001; 293:864-867.
48. Van der Maarel, S. M., and Frants, R. R. The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2005; 76:375-386.
49. Kobayashi, K., Nakahori, Y., Miyake, M., Matsumura, K., Kondo-Iida, E., Nomura, Y., et al. An ancient retrotrans-posal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998; 394:388-392.
50. Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C.Y, Nazareth, L., et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropa-thy. N Engl J Med. 2010; 362:1181-1191.
51. Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., et al. A framework for the interpretation of de novo mutation in human disease. Nat Genet. 2014; 46:944-950.
52. Petrovski, S., Wang, Q., Heinzen, E. L., Allen, A. S., and Goldstein, D. B. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet. 2013; 9: e1003709.
53. Findlay, G. M., Boyle E. A., Hause, R. J., Klein, J. C., and Shendure J. Saturation editing of genomic regions by multiplex homology-directed repair. Nature. 2014; 513:120-123.
54. Kumar, P., Henikoff, S., and Ng, P. C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4: 1073-1081.
55. Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7:248-249.
56. Schwarz, J. M., Rödelsperger, C., Schuelke, M., and Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010; 7:575-576.
57. Kircher, M., Witten, D. M., Jain, P., O’Roak, B. J., Cooper, G. M., and Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014; 46:310-315.
58. Schymkowitz, J., Borg, J., Stricher, F., Nys, R., Rousseau, F., and Serrano L. The FoldX web server: An online force field. Nucleic Acids Res. 2005; 33: W382-W388.
59. Consortium, T. G. The Genotype-Tissue Expression (GTEx) project. Nat Genet. 2013; 45:580-585.
60. Mercuri, E., and Muntoni F. Muscular dystrophies. Lancet. 2013; 381:845-860.
61. Blandin, G., Marchand, S., Charton, K., Danièle, N., Gic-quel, E., Boucheteil, J.-B., et al. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Skelet Muscle. 2013; 3:3.
62. Rossin, E. J., Lage, K., Raychaudhuri, S., Xavier, R. J., Tatar, D., Benita, Y., et al. Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet. 2011; 7: e1001273.
63. Krom, Y. D., Thijssen, P. E., Young, J. M., den Hamer, B., Balog, J., Yao, Z., et al. Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. PLoS Genet. 2013; 9: e1003415.
64. Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., et al. ClinVar: Public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014; 42: D980-D985.
65. Hedberg, C., Niceta, M., Fattori, F., Lindvall, B., Ciolfi, A., D’Amico, A., et al. Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. J Neurol. 2014; 261:870-876.
66. Komlósi, K., Hadzsiev, K., Garbes, L., Martínez Carrera, L. A., Pál, E., Sigurethsson, J. H., et al. Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. Neuromuscul Disord. 2014; 24:156-161.
67. Leidenroth, A., Sorte, H. S., Gilfillan, G., Ehrlich, M., Lyle, R., and Hewitt, J. E. Diagnosis by sequencing: Correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis. Eur J Hum Genet. 2012; 20:999-1003.
68. Palmio, J., Evilä A, Chapon, F., Tasca, G., Xiang, F., Brrmådvik, B., et al. Hereditary myopathy with early respiratory failure: Occurrence in various populations. J Neurol Neurosurg Psychiatry. 2014; 85:345-353.
69. Raphael, A. R., Couthouis, J., Sakamuri, S., Siskind, C., Vogel, H., Day, J. W., et al. Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations. Brain Res. 2014:1-6.
70. Ravenscroft, G., Miyatake, S., Lehtokari, V.-L., Todd, E. J., Vornanen, P., Yau, K. S., et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet. 2013; 93:6-18.
71. Logan, C. V., Szabadkai, G., Sharpe, J. A., Parry, D. A., Torelli, S., Childs, A.-M., et al. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet. 2014; 46:188-193.
72. Carss, K. J., Stevens, E., Foley, A. R., Cirak, S., Riemersma, M., Torelli, S., et al. Mutations in GDP-mannose pyrophos-phorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of - dystroglycan. Am J Hum Genet. 2013; 93:29-41.
73. Stevens, E., Carss, K. J., Cirak, S., Foley a, R., Torelli, S., Willer, T., et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of -dystroglycan. Am J Hum Genet. 2013; 92:354-365.
74. Oates, E. C., Rossor, A. M., Hafezparast, M., Gonzalez, M., Speziani, F., MacArthur, D. G., et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet. 2013; 92:965-973.
75. Kaplan, J.-C., and Hamroun, D. The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2013; 23:1081-1111.
76. Köhler, S., Doelken, S. C., Mungall, C. J., Bauer, S., Firth, H. V., Bailleul-Forestier, I., et al. The Human Phenotype Ontology project: Linking molecular biology and disease through phenotype data. Nucleic Acids Res. 2014; 42:D966-D974.
77. Girdea, M., Dumitriu, S., Fiume, M., Bowdin, S., Boycott, K. M., Chénier, S., et al. PhenoTips: Patient phenotyping software for clinical and research use. Hum Mutat. 2013; 34:1057-1065.
78. Thompson, R., Johnston, L., Taruscio, D., Monaco, L., Béroud, C., Gut, I. G., et al. RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research. J Gen Intern Med. 2014; 29(Suppl 3):780-787.
79. Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet. 2012; 91:193-201.
80. Hicks, D., Farsani, G. T., Laval, S., Collins, J., Sarkozy, A., Martoni, E., et al. Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. Hum Mol Genet. 2014; 23:2353-2363.
81. Majczenko, K., Davidson, A. E., Camelo-Piragua, S., Agrawal, P. B., Manfready R a, Li, X., et al. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012; 91:365-371.
82. Muhammad, E., Reish, O., Ohno, Y., Scheetz, T., Deluca, A., Searby, C., et al. Congenital myopathy is caused by mutation of HACD1. Hum Mol Genet. 2013; 22:5229-5236.
83. Weterman, M. A. J., Barth, P. G., van Spaendonck-Zwarts, K. Y., Aronica, E., Poll-The, B.-T., Brouwer, O. F., et al. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain. 2013; 136:282-293.
84. Böhm, J., Leshinsky-Silver, E., Vassilopoulos, S., Le Gras, S., Lerman-Sagie, T., Ginzberg, M., et al. Samaritan
85. myopathy, an ultimately benign congenital myopathy is caused by a RYR1 mutation. Acta Neuropathol. 2012; 124: 575-581.
86. Ceyhan-Birsoy, O., Agrawal, P. B., Hidalgo, C., Schmitz-Abe, K., DeChene, E. T., Swanson, L. C., et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013; 81: 1205-1214.
87. Chaouch, A., Porcelli, V., and Cox D. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. J Neuromuscul Dis. 2014; 1:75-90.
88. Chauveau, C., Bonnemann, C. G., Julien, C., Kho, A. L., Marks, H., Talim, B., et al. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet. 2014; 23:980-991.
89. Cortese, A., Tucci, A., Piccolo, G., Galimberti, C. a., Fratta, P., Marchioni, E., et al. Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology. 2014:2072-2076.
90. Davidson, A. E., Siddiqui, F. M., Lopez, M. a., Lunt, P., Carlson, H. a., Moore, B. E., et al. Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain. 2013; 136: 508-521.
91. Esposito, T., Sampaolo, S., Limongelli, G., Varone, A., Formicola, D., Diodato, D., et al. Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. Orphanet J Rare Dis. 2013; 8:91.
92. Izumi, R., Niihori, T., Aoki, Y., Suzuki, N., Kato, M., Warita, H., et al. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet. 2013; 58:259-266.
93. Jimenez-Escrig, A., Gobernado, I., Garcia-Villanueva, M., and Sanchez-Herranz A. Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. Muscle Nerve. 2012; 45:605-610.
94. Malfatti, E., Schaeffer, U., Chapon, F., Yang, Y., Eymard, B., Xu, R., et al. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. Neuromuscul Disord. 2013; 23:992-997.
95. Maselli, R., Arredondo, J., Nguyen, J., Lara, M., Ng, F., Ngo, M., et al. Exome sequencing detection of two untranslated G FPT1 mutations in a family with limb-girdle myasthenia. Clin Genet. 2013:166-171.
96. Mitsuhashi, S., Boyden, S. E., Estrella, E. a., Jones, T. I., Rahimov, F., Yu, T. W., et al. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord. 2013; 23:975-980.
97. Ohlsson, M., Hedberg, C., Brådvik, B., Lindberg, C., Tajsharghi, H., Danielsson, O., et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain. 2012; 135:1682-1694.
98. Park, J.-M., Kim, Y. J., Yoo, J. H., Hong, Y., Bin, Park, J. H., Koo, H., et al. A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement. Neuromuscul Disord. 2013; 23:580-586.
99. Pfeffer, G., Elliott, H. R., Griffin, H., Barresi, R., Miller, J., Marsh, J., et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain. 2012; 135:1695-1713.
100. Romero, N. B., Xie, T., Malfatti, E., Schaeffer, U., Böhm, J., Wu, B., et al. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. J Neurol Neurosurg Psychiatry. 2014. doi: 10.1136/jnnp-2013-306754
101. Schessl, J., Bach, E., Rost, S., Feldkirchner, S., Kubny, C., Müller, S., et al. Novel recessive myotilin mutation causes severe myofibrillar myopathy. Neurogenetics. 2014; 15:151-156.
102. Von Renesse, A., Petkova M, V., Lützkendorf, S., Heine-meyer, J., Gill, E., Hübner, C., et al. POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. J Med Genet. 2014; 51:275-282.