Scoliosis surgery in a patient with "de novo" myosin storage myopathy

Neuromuscular Disorders

Volumn 21, Issue 11, 2011, Pages 812-815

  Stalpers, Xenia ^a   Verrips, Aad ^a   Braakhekke, Jan ^b   Lammens, Martin ^c   van den Wijngaard, Arthur ^d   Mostert, Adriaan ^b  

^a CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^b ISALA HOSPITAL   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Hyaline body myopathy; MYH7 gene; Myosin storage myopathy; Scoliosis surgery

Indexed keywords

LYSINE;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE EXACERBATION; DISEASE SEVERITY; GENE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; JOINT CONTRACTURE; MALE; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; MYH7 GENE; MYOPATHY; MYOSIN STORAGE MYOPATHY; ORTHOPEDIC SURGERY; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SCOLIOSIS; SPINE SURGERY; SURGICAL APPROACH; SYMPTOM; THORACOLUMBAR SPINE;

ADOLESCENT; CARDIAC MYOSINS; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL; MUSCULAR DISEASES; MYOSIN HEAVY CHAINS; MYOSINS; SCOLIOSIS; TOMOGRAPHY, X-RAY COMPUTED;

EID: 82455167864     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.05.005     Document Type: Article

References (16)

1. Cancilla P.A., Kalyanaraman K., Verity M.A., Munsat T., Pearson C.M. Familial myopathy with probable lysis of myofibrils in type I fibers. Neurology 1971, 21:579-585.
2. Shingde M.V., Spring P.J., Maxwell A., et al. Myosin storage (hyaline body) myopathy: a case report. Neuromuscul Disord 2006, 16:882-886.
3. Rafay M.F., Halliday W., Bril V. Hyaline body myopathy; adulthood manifestations. Can J Neurol Sci 2005, 32:253-256.
4. Onengut S., Ugur S.A., Karasoy H., Yuceyar N., Tolun A. Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. Neuromuscul Disord 2004, 14:4-9.
5. Bohlega S., Abu-Amero S.N., Wakil S.M., et al. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology 2004, 62:1518-1521.
6. Pegoraro E., Gavassini B.F., Borsato C., et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord 2007, 17:321-329.
7. Uro-Coste E., Arne-Bes M.C., Pellissier J.F., et al. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793 pro mutation. Neuromuscul Disord 2009, 19:163-166.
8. Bohlega S., Lach B., Meyer B.F., et al. Autosomal dominant hyaline body myopathy: clinical variability and pathological findings. Neurology 2003, 61:1519-1523.
9. Ortolano S., Tarrio R., Blanco-Arias P., et al. A novel MYH7 mutation links congenital fiber type disproportion, myosin storage myopathy. Neuromusc Disord 2011, 21:254-262.
10. Laing N.G., Ceuterick-de Groote C., Dye D.E., et al. Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology 2005, 64:527-529.
11. Meredith C., Herrmann R., Parry C., et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). Am J Gen 2004, 75:703-708.
12. Barsdorf A.I., Sproule D.M., Kaufmann P. Scoliosis surgery in children with neuromuscular disease: findings from the US national inpatient sample, 1997-2003. Arch Neurol 2010, 67:231-235.
13. Themistocleous G.S., Sapkas G.S., Papagelopoulos P.J., Stilianessi E.V., Papadopoulos E.Ch., Apostolou C.D. Scoliosis in Steinert syndrome: a case report. Spine J 2005, 5:212-216.
14. Miyamoto K., Shimizu K., Matsumoto S., Sumida H., Iida H., Hosoe H. Surgical treatment of scoliosis associated with central core disease: minimizing the effects of malignant hyperthermia with provocation tests. J Pediatr Orthop B 2007, 16:239-242.
15. Keller D.I., Coirault C., Rau T., et al. Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties. J Mol Cell Cardiol 2004, 36:355-362.
16. Homayoun H., Khavandgar S., Hoover J.M., et al. Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. Neuromuscul Disord 2011, 21:219-222.