Inflammatory changes in infantile-onset lmna-associated myopathy

Neuromuscular Disorders

Volumn 21, Issue 8, 2011, Pages 563-568

  Komaki, Hirofumi ^a   Hayashi, Yukiko K ^b   Tsuburaya, Rie ^b   Sugie, Kazuma ^c   Kato, Mitsuhiro ^d   Nagai, Toshiro ^e   Imataka, George ^e   Suzuki, Shuhei ^f   Saitoh, Shinji ^g   Asahina, Naoko ^g   Honke, Kazuya ^h   Higuchi, Yoshihisa ⁱ   Sakuma, Hiroshi ^a   Saito, Yoshiaki ^a   Nakagawa, Eiji ^a   Sugai, Kenji ^a   Sasaki, Masayuki ^a   Nonaka, Ikuya ^a,b   Nishino, Ichizo ^b  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c NARA MEDICAL UNIVERSITY   (Japan)

^d YAMAGATA UNIVERSITY   (Japan)

^e DOKKYO MEDICAL UNIVERSITY   (Japan)

^f OSAKA MEDICAL COLLEGE   (Japan)

^g HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h National Hospital Organization Iou National Hospital   (Japan)

ⁱ KINDAI UNIVERSITY NARA HOSPITAL   (Japan)

Author keywords

Congenital muscular dystrophy; Emery Dreifuss muscular dystrophy; Infantile; Inflammatory myopathy; Laminopathy; Limb girdle muscular dystrophy; LMNA; Muscle image; Pathology; Steroid therapy

Indexed keywords

CREATINE KINASE;

ARTICLE; CELL INFILTRATION; CLINICAL ARTICLE; CLINICAL EVALUATION; CREATINE KINASE BLOOD LEVEL; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; DISEASE COURSE; ELECTROCARDIOGRAM; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HISTOPATHOLOGY; HOLTER MONITORING; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; JOINT CONTRACTURE; LMN A GENE; LYMPHOCYTE; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOSITIS; ONSET AGE; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

ADRENAL CORTEX HORMONES; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFLAMMATION; LAMIN TYPE A; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; MYOSITIS; RETROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 79960929104     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.04.010     Document Type: Article

References (23)

1. Maraldi N.M., Merlini L. Emery-Dreifuss muscular dystrophy. Myology 2004, 1027-1037. McGraw-Hill, New York, NY. 3rd ed. A.G. Engel, C. Franzini-Armstrong (Eds.).
2. Quijano-Roy S., Mbieleu B., Bönnemann C.G., et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008, 64:81-86.
3. Gultekin S.H. The role of muscle biopsy in the diagnosis of inflammatory myopathy. The Inflammatory Myopathies 2009, 15-28. Human Press, New York, NY. L.J. Kagen (Ed.).
4. Nagai T., Hasegawa T., Saito M., Hayashi S., Nonaka I. Infantile polymyositis: a case report. Brain Dev 1992, 14:167-169.
5. Ishikawa H., Sugie K., Murayama K., et al. Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness. Neurology 2002, 59:920-923.
6. Arahata K., Hoffman E.P., Kunkel L.M., et al. Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci USA 1989, 86:7154-7158.
7. Sambrook J., Russell D.W. Molecular Cloning: A Laboratory Manual 2001, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY.
8. Park Y.E., Hayashi Y.K., Goto K., et al. Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb girdle muscular dystrophy type 1B. Neuromuscul Disord 2009, 19:29-36.
9. Astejada M.N., Goto K., Nagano A., et al. Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. Acta Myol 2007, 26:159-164.
10. Mercuri E., Poppe M., Quinllvan R., et al. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol 2004, 61:690-694.
11. Amato A.A., Griggs R.C. Unicorns, dragons, polymyositis, and other mythological beasts. Neurology 2003, 61:288-289.
12. Emslie-Smith A.M., Arahata K., Engel A.G. Major histocompatibility class I antigen expression, immunolocalization of interferon subtypes, and T cell-mediated cytotoxicity in myopathies. Hum Pathol 1989, 20:224-231.
13. Pegoraro E., Mancias P., Swerdlow S.H., et al. Congenital muscular dystrophy with primary laminin 2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 1996, 40:782-791.
14. Arahata K., Ishihara T., Fukunaga H., et al. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. Muscle Nerve 1995, 2:S56-S66.
15. Gallardo E., Rojas-Garcia R., de Luna N., Pou A., Brown R.H., Illa I. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 2001, 57:2136-2138.
16. Darin N., Kroksmark A.K., Ahlander A.C., et al. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. Eur J Paediatr Neurol 2007, 11:353-357.
17. Thompson C.E. Infantile Myositis. Dev Med Child Neurol 1982, 24:307-313.
18. Vajsar J., Jay V., Babyn P. Infantile myositis presenting in the neonatal period. Brain Dev 1996, 18:415-419.
19. McNeil S.M., Woulfe J., Ross C., Tamopolsky M.A. Congenital inflammatory myopathy: a demonstrative case and proposed diagnostic classification. Muscle Nerve 2002, 25:259-264.
20. Roddy S.M., Ashwal S., Peckham N., Mortensen S. Infantile myositis; a case diagnosed in the neonatal period. Pediatr Neurol 1986, 2:241-244.
21. Mercuri E., Pichiecchio A., Allsop J., Messina S., Pane M., Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging 2007, 25:433-440.
22. van Berlo J.H., de Voogt W.G., van der Kool A.J., et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med 2005, 83:79-83.
23. Meune C., van Berlo J.H., Anselme F., et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006, 354:209-210.