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1)Ohlsson M, Hedberg C, Brådvik B, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain. 2012; 135: 1682-94
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2)Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain. 2012; 135: 1695-713
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3)Pfeffer G, Barresi R, Wilson IJ, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry. 2014; 85: 331-8
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4)Palmio J, Evilä A, Chapon F, et al. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry. 2014; 85: 345-53
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5)Uruha A, Hayashi YK, Oya Y, et al. Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry. 2015; 86: 483-9
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6)Uruha A, Nishino I. Think worldwide: hereditary myopathy with early respiratory failure (HMERF)may not be rare. J Neurol Neurosurg Psychiatry 2014; 85: 248
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7)Pfeffer G, Povitz M, Gibson GJ, et al. Diagnosis of muscle diseases presenting with early respiratory failure. J Neurol. 2015; 262: 1101-14
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8)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: 739-49
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9)Mercuri E, Talim B, Moghadaszadeh B, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord. 2002; 12: 631-8
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10)Okamoto Y, Takashima H, Higuchi I, et al. Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. Neurogenetics. 2006; 7: 175-83
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11)Boyden SE, Mahoney LJ, Kawahara G, et al. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012; 13: 115-24
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12)Nicolao P, Xiang F, Gunnarsson LG, et al. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. Am J Hum Genet. 1999; 64: 788-92
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13)Xiang F, Nicolao P, Chapon F, et al. A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21. Neuromuscul Disord. 1999; 9: 308-12
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14)Yue D, Gao M, Zhu W, et al. New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure. Neuromuscul Disord. 2015; 25: 172-6
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15)Lange S, Xiang F, Yakovenko A, et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science. 2005; 308: 1599-603
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16)Hedberg C, Melberg A, Dahlbom K, et al. Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain. 2014; 137 (Pt 4): e270
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17)Pfeffer G, Griffin H, Pyle A, et al. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain. 2014; 137 (Pt 4): e271
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18)Lange S, Edström L, Udd B, et al. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain. 2014; 137 (Pt 6): e279
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19)Pfeffer G, Chinnery PF. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain. 2014; 137 (Pt 6): e280
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20)Hedberg C, Toledo AG, Gustafsson CM, et al. Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain. Neuromuscul Disord. 2014; 24: 373-9
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21)Ilkovski B, Nowak KJ, Domazetovska A, et al. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Hum Mol Genet. 2004; 13: 1727-43
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22)Izumi R, Niihori T, Aoki Y, et al. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet. 2013; 58: 259-66
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23)Toro C, Olivé M, Dalakas MC, et al. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neurol. 2013; 13: 29
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24)Abe K, Kobayashi K, Chida K, et al. Dominantly inherited cytoplasmic body myopathy in a Japanese kindred. Tohoku J Exp Med. 1993; 170: 261-72
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25)矢彦沢裕之,山嵜正志,佐藤俊一,他.呼吸筋麻痺にて死亡した常染色体優性遺伝遠位型ミオパチーの一例.長野赤十字病院医誌.2003; 17: 25-8
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26)Fisher D, Kley RA, Stratch K, et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology. 2008; 71: 758-65
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27)Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol. 2010; 20: 2447-60
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28)Tasca G, Evilä A, Pane M, et al. Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L. Neuromuscul Disord. 2014; 24: 1118-9
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29)Vasli N, Böhm J, Le Gras S, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol. 2012; 124: 273-83
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