Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography

Journal of the Neurological Sciences

Volumn 318, Issue 1-2, 2012, Pages 163-167

  Komagamine, Tomoko ^a   Kawai, Mitsuru ^b   Kokubun, Norito ^a   Miyatake, Satoko ^b   Ogata, Katsuhisa ^b   Hayashi, Yukiko K ^c   Nishino, Ichizo ^c   Hirata, Koichi ^a  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b Higashisaitama National Hospital   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

fhl1; LIM domain; Muscle CT imaging; Reducing body myopathy; Rigid spine

Indexed keywords

FHL1 PROTEIN; LIM PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ARTIFICIAL VENTILATION; BRACHIAL PLEXUS; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DAUGHTER; DIAGNOSTIC TEST; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROMYOGRAM; ELECTROMYOGRAPHY; ENDOTRACHEAL INTUBATION; EXTENSOR MUSCLE; FAMILY; FEMALE; FLEXOR MUSCLE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; LABORATORY TEST; MALE; MOTHER; MUSCLE; MUSCLE ATROPHY; MUSCLE BIOPSY; MYOPATHY; NEUROIMAGING; PARAVERTEBRAL MUSCLE; PHYSICAL EXAMINATION; PNEUMONIA; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PROTEIN DOMAIN; RATING SCALE; RESPIRATORY FAILURE; RIGID SPINE SYNDROME; SON; SPINAL MUSCULAR ATROPHY; SPINE; SPINE DISEASE; SYMPTOM;

FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; JAPAN; LIM DOMAIN PROTEINS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84861648549     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.04.007     Document Type: Article

References (19)

1. B.S. Cowling, M.J. McGrath, M.A. Nguyen, D.L. Cottle, A.J. Kee, and S. Brown Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy J Cell Biol 183 2008 1033 1048
2. C. Windpassinger, B. Schoser, V. Straub, S. Hochmeister, A. Noor, and B. Lohberger An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1 Am J Hum Genet 82 2008 88 99
3. C.M. Quinzii, T.H. Vu, K.C. Min, K. Tanji, S. Barral, and R.P. Grewal X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1 Am J Hum Genet 82 2008 208 213
4. J. Schessl, Y. Zou, M.J. McGrath, B.S. Cowling, B. Maiti, and S.S. Chin Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy J Clin Invest 118 2008 904 912
5. J. Schessl, A.L. Taratuto, C. Sewry, R. Battini, S.S. Chin, and B. Maiti Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1 Brain 132 2009 452 464
6. S. Shalaby, Y.K. Hayashi, K. Goto, M. Ogawa, I. Nonaka, and S. Noguchi Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1) Neuromuscul Disord 18 2008 959 961
7. L. Gueneau, A.T. Bertrand, J.P. Jais, M.A. Salih, T. Stojkovic, and M. Wehnert Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy Am J Hum Genet 85 2009 338 353
8. H. Knoblauch, C. Geier, S. Adams, B. Budde, A. Rudolph, and U. Zacharias Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation Ann Neurol 67 2010 136 140
9. D. Selcen, M.B. Bromberg, S.S. Chin, and A.G. Engel Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy Neurology 77 2011 1951 1959
10. D.H. Chen, W.H. Raskind, W.W. Parson, J.A. Sonnen, T. Vu, and Y. Zheng A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations J Neurol Sci 296 2010 22 29
11. A. Sarkozy, C. Windpassinger, J. Hudson, C.F. Dougan, B. Lecky, and D. Hilton-Jones Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene Eur J Hum Genet 19 2011 1038 1044
12. J. Schessl, S. Feldkirchner, C. Kubny, and B. Schoser Reducing body myopathy and other FHL1-related muscular disorders Semin Pediatr Neurol 18 2011 257 263
13. B.S. Cowling, D.L. Cottle, B.R. Wilding, C.E. D'Arcy, C.A. Mitchell, and M.J. McGrath Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features Neuromuscul Disord 21 2011 237 251
14. M. Ohsawa, T. Liewluck, K. Ogata, T. Iizuka, Y. Hayashi, and I. Nonaka Familial reducing body myopathy Brain Dev 29 2007 112 116
15. S. Shalaby, Y.K. Hayashi, I. Nonaka, S. Noguchi, and I. Nishino Novel FHL1 mutations in fatal and benign reducing body myopathy Neurology 72 2009 375 376
16. G. Astrea, J. Schessl, E. Clement, M. Tosetti, E. Mercuri, and M. Rutherford Muscle MRI in FHL1-linked reducing body myopathy Neuromuscul Disord 19 2009 689 691
17. J. Schessl, A. Columbus, Y. Hu, Y. Zou, T. Voit, and H.H. Goebel Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1 Neuropediatrics 41 2010 43 46
18. L.B. Waddell, J. Tran, X.F. Zheng, C.G. Bönnemann, Y. Hu, and F.J. Evesson A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients Neuromuscul Disord 21 2011 776 781
19. E. Mercuri, A. Pichiecchio, J. Allsop, S. Messina, M. Pane, and F. Muntoni Muscle MRI in inherited neuromuscular disorder: past, present, and future J Magn Reson Imaging 25 2007 433 440