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Italian Journal of Pediatrics
Published in: Italian Journal of Pediatrics 1/2017

Open Access 01-12-2017 | Review

Congenital myopathies: clinical phenotypes and new diagnostic tools

Authors: Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M. Santorelli, the Italian Network on Congenital Myopathies

Published in: Italian Journal of Pediatrics | Issue 1/2017

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Abstract

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.
Literature
1.
North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014;24:97–116.PubMedCrossRef
2.
Tubridy N, Fontaine B, Eymard B. Congenital myopathies and congenital muscular dystrophies. Curr Opin Neurol. 2001;14:575–82.PubMedCrossRef
3.
Jungbluth H, Voermans NC. Congenital myopathies: not only a paediatric topic. Curr Opin Neurol. 2016;29:642–50.PubMedCrossRef
4.
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;84:28–35.PubMedPubMedCentralCrossRef
5.
Fardeau M, Tome F. Congenital myopathies. In: Engler AG, Franzini-Armstrong C, editors. Myology. New York: McGraw-Hill; 1994. p. 1487–533.
6.
Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC international workshop: nemaline myopathy. Naarden, the Netherlands.11-13 June 1999. Neuromuscul Disord. 2000;10:299–306.PubMedCrossRef
7.
Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol. 2001;50:312–20.PubMedCrossRef
8.
Fridzianska A, Badurska B, Ryniewicz B, Dembek I. “Cap disease”: a new congenital myopathy. Neurology 1981;31:1113–1120.
9.
Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacène E, Avila-Smirnow D, et al. New morphologic and genetic finding in cap disease associated with betatropomyosin (TMP2) mutations. Neurology. 2008;71:1896–901.PubMedCrossRef
10.
Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN. Cap disease due to mutation of the beta-tropomyosin gene (TMP2). Neuromuscul Disord. 2009;19:348–51.PubMedCrossRef
11.
De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, et al. A TPM3 mutation causing cap myopathy. Neuromuscul Disord. 2009;19:685–8.PubMedCrossRef
12.
Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Cap myopathy caused by mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010;20:238–40.PubMedCrossRef
13.
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;51:192–7.PubMedCrossRef
14.
Dubowitz V, Pearse AG. Oxidative enzyme and phosphorylase in central core disease of muscle. Lancet. 1960;2:23–4.PubMedCrossRef
15.
Engel AG, Gomez MR, Groover RV. Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers. Mayo Clin Proc. 1971;46:666–81.PubMed
16.
17.
Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003;126:2341–9.PubMedCrossRef
18.
De Cauwer H, Heytens L, Martin JJ. 89th ENMC international workshop: central Core disease. Hilversum, The Netherlands, 19-20 January 2001. Neuromuscul Disord. 2002;12:588–95.PubMedCrossRef
19.
Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, et al. Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007;130:2024–36.PubMedCrossRef
20.
21.
Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, et al. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 2005;65:1930–5.PubMedCrossRef
22.
Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, et al. CG. Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013;80:1584–9.PubMedPubMedCentralCrossRef
23.
Spiro AJ, Shy GM, Gonatas NK. Myotubular myopathy: persistence of fetal muscle in an adolescent boy. Arch Neurol. 1966;14:1–14.PubMedCrossRef
24.
25.
Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, et al. Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J Neurol. 2015;262:1728–40.PubMedCrossRef
26.
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X-Linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol. 2005;64:555–64.PubMedCrossRef
27.
Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, et al. Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. Neuromuscul Disord. 2016;26:292–9.PubMedPubMedCentralCrossRef
28.
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;134:206–14.PubMedCrossRef
29.
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;12:939–46.PubMedCrossRef
30.
Hammans SR, Robinson DO, Moutou C, Kennedy CR, Dennis NR, Hughes PJ, Ellison DWA. Clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. Neuromuscul Disord. 2000;10:133–7.PubMedCrossRef
31.
Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, et al. Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. Hum Genet. 1999;104:249–53.PubMedCrossRef
32.
Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, et al. Necklace fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol. 2009;117:283–91.PubMedCrossRef
33.
34.
Concilla PA, Kalayanaraman K, Verity MA, Munsat T, Pearson CM. Familial myopathy with probable lysis of myofibrils in type I fibers. Neurology. 1971;21:579–85.CrossRef
35.
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;54:494–500.PubMedCrossRef
36.
Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet. 1995;56:422–7.PubMedPubMedCentral
37.
Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, et al. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord. 2011;21:254–62.PubMedCrossRef
38.
Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, et al. Mutations in MYH7 cause multi-minicore disease (MmD) with variable cardiac involvement. Neuromuscul Disord. 2012;22:1096–104.PubMedCrossRef
39.
Ruggiero L, Fiorillo C, Gibertini S, De Stefano F, Manganelli F, Iodice R, et al. A rare mutation in MYH7 gene occurs with overlapping phenotype. Biochem Biophys Res Commun. 2015;457:262–6.PubMedCrossRef
40.
Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, et al. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet J Rare Dis. 2016;11:91.PubMedPubMedCentralCrossRef
41.
Astrea G, Petrucci A, Cassandrini D, Savarese M, Trovato R, Lispi L, Rubegni A, et al. Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report. BMC Med Genet. 2016;17:25.PubMedPubMedCentralCrossRef
42.
Astrea G, Munteanu I, Cassandrini D, Lillis S, Trovato R, Pegoraro E, et al. A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance. Pediatr Neurol. 2015;52:548–51.PubMedCrossRef
43.
Castiglioni C, Cassandrini D, Fattori F, Bellacchio E, D'Amico A, Alvarez K, et al. Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. Muscle Nerve. 2014;50:1011–6.PubMedCrossRef
44.
Dubowitz V, Sewry CA. Muscle biopsy: a practical approach. 3rd ed. Edinburgh: Sanders Elsevier; 2007.
45.
Sewry CA, Müller C, Davis M, Dwyer JS, Dove J, Evans G, et al. The spectrum of pathology in central core disease. Neuromuscul Disord. 2002;12:930–8.PubMedCrossRef
46.
Boncompagni S, Rossi AE, Micaroni M, Hamilton SL, Dirksen RT, Franzini-Armstrong C, et al. Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc Natl Acad Sci U S A. 2009;106:21996–2001.PubMedPubMedCentralCrossRef
47.
Bönnemann CG, Thompson TG, van der Ven PF, Goebel HH, Warlo I, Vollmers B, et al. Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. J Neurol Sci. 2003;206:71–8.PubMedCrossRef
48.
Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord. 2004;14:785–90.PubMedCrossRef
49.
Mercuri E, Pichiecchio A, Counsell S, Allsop J, Cini C, Jungbluth H, Uggetti C, Bydder GA. Short protocol for muscle MRI in children with muscular dystrophies. Eur J Paediatr Neurol. 2002;6:305–7.PubMedCrossRef
50.
Mercuri E, Cini C, Pichiecchio A, Allsop J, Counsell S, Zolkipli Z, et al. Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. Neuromuscul Disord. 2003;13:554–8.PubMedCrossRef
51.
Astrea G, Schessl J, Clement E, Tosetti M, Mercuri E, Rutherford M, et al. Muscle MRI in FHL1-linked reducing body myopathy. Neuromuscul Disord. 2009;19:689–91.PubMedCrossRef
52.
Astrea G, Brisca G, Fiorillo C, Valle M, Tosetti M, Bruno C, et al. Muscle MRI in TRPV4-related congenital distal SMA. Neurology. 2012;78:364–5.PubMedCrossRef
53.
54.
Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul Disord. 2004;14:779–84.PubMedCrossRef
55.
Schessl J, Medne L, Hu Y, Zou Y, Brown MJ, Huse JT, et al. MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Neuromuscul Disord. 2007;17:28–32.PubMedCrossRef
56.
Kesper K, Kornblum C, Reimann J, Lutterbey G, Schröder R, Wattjes MP. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. Acta Neurol Scand. 2009;120:111–8.PubMedCrossRef
57.
Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul Disord. 2010;20:229–37.PubMedCrossRef
58.
Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, et al. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One. 2013;8:e70993.PubMedPubMedCentralCrossRef
59.
Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A. 1999;96:2305–10.PubMedPubMedCentralCrossRef
60.
Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 1999;23:208–12.PubMedCrossRef
61.
Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet. 1995;9:75–9.PubMedCrossRef
62.
Donner K, Ollikainen M, Ridanpaa M, Christen HJ, Goebel HH, de Visser M, et al. Mutations in the beta-tropomyosin (TPM2) gene-a rare cause of nemaline myopathy. Neuromuscul Disord. 2002;12:151–8.PubMedCrossRef
63.
Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet. 2000;67:814–21.PubMedPubMedCentralCrossRef
64.
Agrawal PB, Greenleaf RS, Tomczak K, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, 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;80:162–7.PubMedCrossRef
65.
Sambuughin N, Yau K, Olive M, Duff RM, Bayarsaikhan M, Lu S, et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet. 2010;87:842–7.PubMedPubMedCentralCrossRef
66.
Ravenscroft G, Miyatake S, Lehtokari K, Todd EJ, Vornanen P, Yau KS, et al. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet. 2013;93:6–18.PubMedPubMedCentralCrossRef
67.
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;93:1108–17.PubMedPubMedCentralCrossRef
68.
Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, et al. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2014;11:4693–708.CrossRef
69.
Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993;5:46–50.PubMedCrossRef
70.
Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, et al. A recessive form of central core disease, transiently presenting as multiminicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol. 2002;51:750–9.PubMedCrossRef
71.
Treves S, Anderson AA, Ducreux S, Divet A, Bleunven C, Grasso C, et al. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord. 2005;15:577–87.PubMedCrossRef
72.
Ramachandran S, Chakraborty A, Xu L, Mei Y, Samsó M, Dokholyan NV, et al. Structural determinants of skeletal muscle ryanodine receptor gating. J Biol Chem. 2013;288:6154–65.PubMedPubMedCentralCrossRef
73.
Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, et al. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol. 2011;37:271–84.PubMedCrossRef
74.
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;31:E1544–50.PubMedCrossRef
75.
Quane KA, Healy JM, Keating KE, Manning BM, Couch FJ, Palmucci LM, et al. Mutation in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993;5:51–5.PubMedCrossRef
76.
McCarthy TV, Quane KA, Linch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat. 2000;15:410–7.PubMedCrossRef
77.
Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann 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;71:739–49.PubMedPubMedCentralCrossRef
78.
Castets P, Bertrand AT, Beuvin M, Ferry A, Le Grand F, Castets M, et al. Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum Mol Genet. 2011;4:694–704.CrossRef
79.
Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, et al. Congenital myopathies - clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013;23:195–205.PubMedCrossRef
80.
Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, Mandel JL. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet. 2000;22:2223–9.CrossRef
81.
Bitoun M, Maugenre S, Jeannet PY. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005;37:1207–9.PubMedCrossRef
82.
Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, et al. A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. Hum Mol Genet. 2010;19:4820–36.PubMedCrossRef
83.
Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N. Two novel mutations in dynamin-2 cause axonal Charcot-Marie-toot disease. Neurology. 2007;69:291–5.PubMedCrossRef
84.
Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Böhm J, et al. Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. Eur J Hum Genet. 2013;21:637–42.PubMedCrossRef
85.
Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007;39:1134–9.PubMedCrossRef
86.
Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, et al. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain. 2014;137:3160–70.PubMedCrossRef
87.
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, et al. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol. 2011;121:253–66.PubMedCrossRef
88.
Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010;68:717–26.PubMedCrossRef
89.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013;81:1205–14.PubMedPubMedCentralCrossRef
90.
Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, et al. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J hum. G E N. 2013;95:218–26.
91.
Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, 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;91:365–71.PubMedPubMedCentralCrossRef
92.
Clarke N, Kolski H, Dye D, Lim E, Smith RL, Patel R, et al. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008;63:329–37.PubMedCrossRef
93.
Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat. 2010;31:176–83.PubMedPubMedCentralCrossRef
94.
Laing NG, Clarke NF, Dye DE, Liyanage K, Walker KR, Kobayashi Y, et al. Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol. 2004;56:689–94.PubMedCrossRef
95.
Brandis A, Aronica E, Goebel HH. TPM2 mutation. Neuromuscul Disord 2008;18:1005.
96.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, et al. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropathol. 2017;133:517–33.PubMedCrossRef
97.
Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, et al. Stac3 is a component of the excitation-contraction coupling machinery and mutated in native American myopathy. Nat Commun. 2013, 1952;4
98.
Linsley JW, Hsu IU, Groom L, Yarotskyy V, Lavorato M, Horstick EJ, et al. Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. Proc Natl Acad Sci U S A. 2017;114:E228–36.PubMedCrossRef
99.
Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain. 2016;139:674–91.PubMedCrossRef
100.
Mercier S, Lornage X, Malfatti E, Marcorelles P, Letournel F, Boscher C, et al. Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. Neurology. 2017;88:414–6.PubMedCrossRef
101.
Knierim E, Gill E, Seifert F, Morales-Gonzalez S, Unudurthi SD, Hund TJ, Stenzel W, Schuelke MA. Recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. Hum Genet. 2017;136:903–10.PubMedCrossRef
102.
103.
104.
Oliveira J, Gonçalves A, Taipa R, Melo-Pires M, Oliveira ME, Costa JL, et al. M. New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. J Hum Genet. 2016;61:497–505.PubMedCrossRef
105.
Nigro V, Savarese M. Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol. 2016;29:621–7.PubMedCrossRef
106.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, et al. The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients. Neurology. 2016;87:71–6.PubMedPubMedCentralCrossRef
107.
Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, et al. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned. JAMA Neurol. 2015;72:1424–32.PubMedCrossRef
108.
Alyass A, Turcotte M, Meyre D. From big data analysis to personalized medicine for all: challenges and opportunities. BMC Med Genet. 2015;8:33.
109.
110.
Kress W, Rost S, Kolokotronis K, Meng G, Pluta N, Müller-Reible C. The genetic approach: next-generation sequencing-based diagnosis of congenital and infantile myopathies/muscle dystrophies. Neuropediatrics. 2017;48:242–6.PubMedCrossRef
111.
112.
Jungbluth H, Ochala J, Treves S, Gautel M. Current and future therapeutic approaches to the congenital myopathies. Semin Cell Dev Biol. 2017;64:191–200.PubMedCrossRef
113.
Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol. 2012;27:363–82.PubMedPubMedCentralCrossRef
114.
Messina S, Hartley L, Main M, Kinali M, Jungbluth H. Muntoni F, .Mercuri E. Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics. 2004;35:262–6.PubMedCrossRef
115.
116.
Dowling JJ, Arbogast S, Hur J, Nelson DD, McEvoy A, Waugh T, et al. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain. 2012;135:1115–27.PubMedPubMedCentralCrossRef
117.
Nowak KJ, Ravenscroft G, Jackaman C, Filipovska A, Davies SM, Lim EM, et al. Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin. J Cell Biol. 2009;185:903–15.PubMedPubMedCentralCrossRef
118.
Ravenscroft G, Laing NG, Bönnemann CG. Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain. 2015;138:246–68.PubMedCrossRef
Metadata
Title
Congenital myopathies: clinical phenotypes and new diagnostic tools
Authors
Denise Cassandrini
Rosanna Trovato
Anna Rubegni
Sara Lenzi
Chiara Fiorillo
Jacopo Baldacci
Carlo Minetti
Guja Astrea
Claudio Bruno
Filippo M. Santorelli
the Italian Network on Congenital Myopathies
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2017
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/s13052-017-0419-z

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