Novel recessive myotilin mutation causes severe myofibrillar myopathy

Neurogenetics

Volumn 15, Issue 3, 2014, Pages 151-156

  Schessl, Joachim ^a   Bach, Elisa ^b   Rost, Simone ^b   Feldkirchner, Sarah ^a   Kubny, Christiana ^a   Müller, Stefan ^c   Hanisch, Franz Georg ^c   Kress, Wolfram ^b   Schoser, Benedikt ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Myofibrillar myopathy; Myotilin; Recessive muscle disease; Whole exome sequencing

Indexed keywords

MUSCLE PROTEIN; MYOTILIN; UNCLASSIFIED DRUG; CONNECTIN; MYOT PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DISEASE SEVERITY; ELECTROMYOGRAPHY; EXOME; FAMILY; GASTROCNEMIUS MUSCLE; GENOME ANALYSIS; GERMANIC PEOPLE; HAMSTRING; HISTOPATHOLOGY; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; ILIOPSOAS MUSCLE; IMMUNOBLOTTING; LASER MICRODISSECTION; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYOTILIN GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN EXPRESSION; QUADRICEPS FEMORIS MUSCLE; QUANTITATIVE ANALYSIS; RECESSIVE GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SINUS ARRHYTHMIA; EXON; GENETICS; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PATHOLOGY; SKELETAL MUSCLE;

ADULT; CONNECTIN; EXONS; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL;

EID: 84904538415     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-014-0410-4     Document Type: Article

References (22)

1. Schroder R, Schoser B (2009) Myofibrillarmyopathies: a clinical and myopathological guide. Brain Pathol 19(3):483-492
2. Selcen D (2011) Myofibrillar myopathies. Neuromuscul Disord 21(3):161-171
3. Selcen D (2010) Myofibrillar myopathies. Curr Opin Neurol 23(5):477-481. doi:10.1097/WCO.0b013e32833d38b0
4. Selcen D, Engel AG (2011) Myofibrillar myopathies. Handb Clin Neurol 101:143-154
5. Selcen D, Ohno K, Engel AG (2004) Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 127(Pt 2):439-451. doi:10.1093/brain/awh052 (Pubitemid 38160328)
6. Salmikangas P, Mykkanen OM, Gronholm M, Heiska L, Kere J, Carpen O (1999) Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum Mol Genet 8(7):1329-1336 (Pubitemid 29329003)
7. Salmikangas P, van der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, Schroder R, Lappalainen P, Furst DO, Carpen O (2003) Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet 12(2):189-203 (Pubitemid 36124454)
8. Gontier Y, Taivainen A, Fontao L, Sonnenberg A, van der Flier A, Carpen O, Faulkner G, Borradori L (2005) The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. J Cell Sci 118(Pt 16):3739-3749 (Pubitemid 41309420)
9. van der Ven PF, Wiesner S, Salmikangas P, Auerbach D, Himmel M, Kempa S, Hayess K, Pacholsky D, Taivainen A, Schroder R, Carpen O, Furst DO (2000) Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. J Cell Biol 151(2):235-248
10. Berciano J, Gallardo E, Dominguez-Perles R, Garcia A, Garcia-Barredo R, Combarros O, Infante J, Illa I (2008) Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. J Neurol Neurosurg Psychiatry 79(2):205-208 (Pubitemid 351236559)
11. Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC (2005) A mutation in myotilin causes spheroid body myopathy. Neurology 65(12):1936-1940. doi:10.1212/01.wnl.0000188872.28149.9a (Pubitemid 43970114)
12. Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL (2002) Myotilin mutation found in second pedigree with LGMD1A. Am J Hum Genet 71(6):1428-1432 (Pubitemid 36015896)
13. Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC (2000) Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 9(14):2141-2147
14. Olive M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I (2005) Myotilinopathy: refining the clinical and myopathological phenotype. Brain 128(Pt 10):2315-2326 (Pubitemid 41407972)
15. Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmuller H (2011) A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol 258(8):1437-1444. doi:10.1007/s00415-011-5953-9
16. Penisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O, Udd B (2006) Myotilinopathy in a family with late onset myopathy. Neuromuscul Disord 16(7):427-431 (Pubitemid 44094099)
17. Vattemi G, Neri M, Piffer S, Vicart P, Gualandi F, Marini M, Guglielmi V, Filosto M, Tonin P, Ferlini A, Tomelleri G (2011) Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. Acta Myol 30(2):121-126
18. Feldkirchner S, Schessl J, Muller S, Schoser B, Hanisch FG (2012) Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components. Proteomics 12(23-24):3598-3609. doi:10.1002/pmic.201100559
19. Selcen D, Engel AG (2004) Mutations in myotilin cause myofibrillar myopathy. Neurology 62(8):1363-1371 (Pubitemid 38526050)
20. Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK (2009) Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. J Neuropathol Exp Neurol 68(6):701-707. doi:10.1097/NEN.0b013e3181a7f703
21. Feldkirchner S, Walter MC, Muller S, Kubny C, Krause S, Kress W, Hanisch FG, Schoser B, Schessl J (2013) Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy. Neuromuscul Disord 23:418-426
22. Kley RA, Maerkens A, Leber Y, Theis V, Schreiner A, van der Ven PF, Uszkoreit J, Stephan C, Eulitz S, Euler N, Kirschner J, Muller K, Meyer HE, Tegenthoff M, Furst DO, Vorgerd M, Muller T, Marcus K (2013) A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Mol Cell Proteomics 12(1):215-227