Hereditary myopathy with early respiratory failure: Occurrence in various populations

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 3, 2014, Pages 345-353

  Palmio, Johanna ^a   Evilä, Anni ^b   Chapon, Françoise ^c   Tasca, Giorgio ^d   Xiang, Fengqing ^e   Bradvik, Björn ^f   Eymard, Bruno ^g   Echaniz Laguna, Andoni ^h   Laporte, Jocelyn ⁱ   Kärppä, Mikko ^j   Mahjneh, Ibrahim ^j   Quinlivan, Rosaline ^k   Laforêt, Pascal ^g   Damian, Maxwell ^l   Berardo, Andres ^m   Taratuto, Ana Lia ⁿ   Bueri, Jose Antonio ^m   Tommiska, Johanna ^b   Raivio, Taneli ^b   Tuerk, Matthias ^o   Gölitz, Philipp ^o   Chevessier, Frederic ^o   Sewry, Caroline ^p   Norwood, Fiona ^q   Hedberg, Carola ^r   Schröder, Rolf ^o   Edström, Lars ^e   Oldfors, Anders ^r   Hackman, Peter ^b   Udd, Bjarne ^a,b,s   more..

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c CAEN UNIVERSITY HOSPITAL   (France)

^d IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^e KAROLINSKA INSTITUTE   (Sweden)

^f LUND UNIVERSITY   (Sweden)

^g Bichat and Salpetriere University Hospitals   (France)

^h UNIVERSITY HOSPITAL OF STRASBOURG   (France)

ⁱ UNIVERSITÉ DE STRASBOURG   (France)

^j UNIVERSITY OF OULU   (Finland)

^k MEDICAL RESEARCH COUNCIL   (United Kingdom)

^l CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^m UNIVERSIDAD AUSTRAL   (Argentina)

ⁿ FLENI   (Argentina)

^o UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^p ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^q KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^r SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^s VAASA CENTRAL HOSPITAL   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DNA DETERMINATION; EXOME; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEUROMUSCULAR DISEASE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EPIDEMIOLOGY; GENETICS; MYOPATHY;

ADULT; AGED; CONNECTIN; EXOME; FEMALE; GENETIC DISEASES, INBORN; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE; RESPIRATORY INSUFFICIENCY;

EID: 84896740436     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-304965     Document Type: Article

References (25)

1. Edström L, Thornell LE, Albo J, et al. Myopathy with respiratory failure and typical myofibrillar lesions. J Neurol Sci 1990;96:211-28. (Pubitemid 20187701)
2. 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. (Pubitemid 40807503)
3. Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012;135:1695-713.
4. Ohlsson M, Hedberg C, Bradvik B, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 2012;135:1682-94.
5. Birchall D, von der Hagen M, Bates D, et al. Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. Neuromuscul Disord 2005;15:595-600. (Pubitemid 41139191)
6. Tasca G, Mirabella M, Broccolini A, et al. An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation. Neuromuscul Disord 2010;20:730-4.
7. Chapon F, Viader F, Fardeau M, et al. Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency (in French). Rev Neurol (Paris) 1989;145:460-5. (Pubitemid 19164679)
8. Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002;30:201-4.
9. Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002;71:492-500. (Pubitemid 34970121)
10. Carmignac V, Salih MA, Quijano-Roy S, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007;61:340-51. (Pubitemid 46676734)
11. Herman DS, Lam L, Taylor MR, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012;366:619-28.
12. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler Transform. Bioinformatics 2009;25:1754-60.
13. McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010;20:1297-303.
14. Vasli N, Bohm J, Le Gras S, et al. Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol 2012;124:273-83.
15. Edström L, Thornell LE, Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci 1980;47:171-90. (Pubitemid 10046295)
16. 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. (Pubitemid 30460421)
17. 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. (Pubitemid 29301711)
18. 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.
19. 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 Feb 28. [Epub ahead of print]
20. Chinnery PF, Johnson MA, Walls TJ, et al. A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci. Ann Neurol 2001;49:443-52. (Pubitemid 32284949)
21. Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004;127:439-51. (Pubitemid 38160328)
22. Udd B, Vihola A, Sarparanta J, et al. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 2005;64:636-42. (Pubitemid 40261891)
23. Waters S, Marchbank K, Solomon E, et al. Interactions with LC3 and polyubiquitin chains link nbr1 to autophagic protein turnover. FEBS Lett 2009;583:1846-52.
24. Bucher RM, Svergun DI, Muhle-Goll C, et al. The structure of the FnIII Tandem A77-A78 points to a periodically conserved architecture in the myosin-binding region of titin. J Mol Biol 2010;401:843-53.
25. Labeit S, Gautel M, Lakey A, et al. Towards a molecular understanding of titin. EMBO J 1992;11:1711-16.