Myofibrillar myopathies

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1137-1342

  Claeys, Kristl G ^a   Fardeau, Michel ^b  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DESMIN;

CHILD; GENETICS; HUMAN; METABOLISM; MUSCLE FIBRIL; MYOPATHIES, STRUCTURAL, CONGENITAL; PATHOLOGY; SKELETAL MUSCLE;

CHILD; DESMIN; HUMANS; MUSCLE, SKELETAL; MYOFIBRILS; MYOPATHIES, STRUCTURAL, CONGENITAL;

EID: 84876831827     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00005-8     Document Type: Chapter

References (29)

1. Berciano J., Gallardo E., Dominquez-Perles R., et al. Autosomal dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. J Neurol Neurosurg Psychiatry 2008, 79:205-208.
2. Claeys K.G., Fardeau M., Schröder R., et al. Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. Neuromuscul Disord 2008, 18:656-666.
3. Claeys K.G., van der Ven P.F., Behin A., et al. Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Acta Neuropathol (Berl) 2009, 117:293-307.
4. Dalakas M.C., Park K.Y., Semino-Mora C., et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000, 342:770-780.
5. De Bleecker J., Engel A.G., Ertl B.B. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996, 55:563-577.
6. Fardeau M., Godet-Guillain J., Tome F.M., et al. A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (in French). Rev Neurol (Paris) 1978, 134:411-425.
7. Fischer D., Kley R.A., Strach K., et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 2008, 71:758-765.
8. Goebel H.H., Fardeau M., Olivé M., et al. 156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands. Neuromuscul Disord 2008, 18:583-592.
9. Goldfarb L.G., Park K.Y., Cervenakova L., et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998, 19:402-403.
10. Griggs R., Vihola A., Hackman P., et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007, 130:1477-1484.
11. Kley R., Hellenbroich Y., van der Ven P.F., et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 2007, 130:3250-3264.
12. Kostera-Pruszczyk A., Pruszczyk P., Kaminska A., et al. Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol 2008, 131:146-147.
13. Lacson A.G., Seshia S.S., Sarnat H.B., et al. Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian Natives. Can J Neurol Sci 1994, 21:203-212.
14. Muñoz-Mármol A.M., Strasser G., Isamat M., et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci U S A 1998, 95:11312-11317.
15. Nakano S., Engel A.G., Waclawik A.J., et al. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996, 55:549-562.
16. Olivé M., Goldfarb L., Moreno D., et al. Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci 2004, 219:125-137.
17. Olivé M., Goldfarb L., Shatunov A., et al. Myotilinopathy: refining the clinical and myopathological phenotype. Brain 2005, 128:2315-2326.
18. Pénisson-Besnier I., Talvinen K., Dumez C., et al. Myotilinopathy in a family with late onset myopathy. Neuromuscul Disord 2006, 16:427-431.
19. Schröder R., Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol 2009, 19:483-492.
20. Selcen D. Myofibrillar myopathies. Curr Opin Neurol 2008, 21:585-589.
21. Selcen D., Engel A.G. Myofibrillar myopathy caused by novel dominant negative alphaB-crystallin mutations. Ann Neurol 2003, 54:804-810.
22. Selcen D., Engel A.G. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004, 62:1363-1371.
23. Selcen D., Engel A.G. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005, 57:269-276.
24. Selcen D., Ohno K., Engel A.G. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004, 127:439-451.
25. Selcen D., Muntoni F., Burton B.K., et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol 2009, 65:83-89.
26. Shatunov A., Olive M., Odgerel Z., et al. In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet 2009, 17:656-663.
27. Strach K., Sommer T., Grohé C., et al. Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscul Disord 2008, 18:475-482.
28. Vicart P., Caron A., Guicheney P., et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998, 20:92-95.
29. Vorgerd M., van der Ven P.F.M., Bruchertseifer V., et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005, 77:297-304.