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Caso Clínico Schwartz-Jampel 28/05/07

 

 

Revisión Bibliográfica:

"Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome". Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S. Hum Mutat 2006 Nov;27(11):1082-91.

"Crying or smiling? The Schwartz-Jampel syndrome". Naharajakumar, Subbulakshmi C, John E, Kumaresan G, Senguttuvan M. J Pediatr . 2006 May;148(5):702.

"Schwartz-Jampel syndrome and perlecan deficiency". Stum M, Davoine CS, Fontaine B, Nicole S. Acta Myol . 2005 Oct;24(2):89-92.

"The effect of the Schwartz-Jampel syndrome on masticatory and facial musculatures--an electromyographic analysis". Regalo SC, Vitti M, Semprini M, de Mattos Mda G, Hallak JE, Brandao C, Serrano KV. Electromyogr Clin Neurophysiol . 2005 Apr-May;45(3):183-9.

"102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands". Nicole S, Topaloglu H, Fontaine B. Neuromuscul Disord . 2003 May;13(4):347-51.

"Patient preferences for eye drop characteristics: a willingness-to-pay analysis". Jampel HD, Schwartz GF, Robin AL, Abrams DA, Johnson E, Miller RB. Arch Ophthalmol . 2003 Apr;121(4):540-6.

"Schwartz-Jampel syndrome: report of five cases". Reed UC, Reimao R, Espindola AA, Kok F, Ferreira LG, Resende MB, Messias TC, Carvalho MS, Diament A, Scaff M, Marie SK. Arq Neuropsiquiatr . 2002 Sep;60(3-B):734-8.

"Schwartz-Jampel syndrome type 2 versus Stuve-Wiedemann syndrome". Navarrete Faubel FE, Perez Aytes A, Pastor Rosado J, Mascarell Gregoria A. An Esp Pediatr . 2002 May;56(5):473-4.

"Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia". Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Am J Hum Genet . 2002 May;70(5):1368-75. Epub 2002 Apr 8.

"Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)". Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B. Nat Genet . 2000 Dec;26(4):480-3.

"The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene". Nicole S, White PS, Topaloglu H, Beigthon P, Salih M, Hentati F, Fontaine B. Hum Genet . 1999 Jul-Aug;105(1-2):98-103.

"Single motor unit activity pattern in patients with Schwartz-Jampel syndrome". Christova LG, Alexandrov AS, Ishpekova BA. J Neurol Neurosurg Psychiatry . 1999 Feb;66(2):252-3.

"Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1". Brown KA, al-Gazali LI, Moynihan LM, Lench NJ, Markham AF, Mueller RF. J Med Genet . 1997 Aug;34(8):685-7.

"Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia". Giedion A. Pediatr Radiol . 1997 May;27(5):454.

"Schwartz-Jampel syndrome: evidence of central nervous system dysfunction". Singh B, Biary N, Jamil AA, al-Shahwan SA. J Child Neurol . 1997 Apr;12(3):214-7.

"Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia". Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A. Eur J Pediatr . 1997 Mar;156(3):214-23.

"Cognitive impairment in Schwartz-Jampel syndrome: a case study". Paradis CM, Gironda F, Bennett M. Brain Lang . 1997 Feb 1;56(2):301-5.

"Identical twins with the classical form of Schwartz-Jampel syndrome". Pinto-Escalante D, Ceballos-Quintal JM, Canto-Herrera J. Clin Dysmorphol . 1997 Jan;6(1):45-9.

"Stimulation single fibre EMG study in a patient with Schwartz-Jampel syndrome". Arimura K, Takenaga S, Nakagawa M, Osame M, Stalberg E. J Neurol Neurosurg Psychiatry . 1996 Oct;61(4):425-6.

"Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine". Squires LA, Prangley J. Pediatr Neurol . 1996 Sep;15(2):172-4.

"Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval". Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F. Hum Genet . 1996 Sep;98(3):380-5.

"Schwartz-Jampel syndrome: clinical, electromyographic and genetic studies". Ishpekova B, Rasheva M, Moskov M. Electromyogr Clin Neurophysiol . 1996 Apr-May;36(3):151-5.

"Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates". Al-Gazali LI, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D. J Med Genet . 1996 Mar;33(3):203-11.

"Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping". Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J, et al. Hum Mol Genet . 1995 Sep;4(9):1633-6.

"Anaesthesia in a child with Schwartz-Jampel syndrome". Ray S, Rubin AP. Anaesthesia . 1994 Jul;49(7):600-2.

"Improvement of myotonia with carbamazepine in three cases with the Schwartz-Jampel syndrome". Topaloglu H, Serdaroglu A, Okan M, Gucuyener K, Topcu M. Neuropediatrics . 1993 Aug;24(4):232-4.

"The Schwartz-Jampel syndrome". al Gazali LI. Clin Dysmorphol . 1993 Jan;2(1):47-54.

"Schwartz-Jampel syndrome with dominant inheritance". Spaans F. Muscle Nerve . 1991 Nov;14(11):1142-4.

"Schwartz-Jampel syndrome. Clinical and histopathological study of 4 cases". Ben Hamida M, Miladi N, Ben Hamida C. Rev Neurol (Paris) . 1991;147(4):279-84.

"Different gene loci for hyperkalemic and hypokalemic periodic paralysis". Fontaine B, Troffater J, Rouleau GA, Khurana TS, Haines J, Brown R, Gusella JF. Neuromuscul Disord . 1991;1(4):235-8.

"Schwartz-Jampel syndrome with dominant inheritance". Pascuzzi RM, Gratianne R, Azzarelli B, Kincaid JC. Muscle Nerve . 1990 Dec;13(12):1152-63.

"Chondrodystrophic myotonia (Schwartz-Jampel syndrome) in South African children". Moodley M, Moosa A. Neuropediatrics . 1990 Nov;21(4):206-10.

"Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies". Spaans F, Theunissen P, Reekers AD, Smit L, Veldman H. Muscle Nerve . 1990 Jun;13(6):516-27.

"Schwartz-Jampel syndrome: II. Na+ channel defect causes myotonia". Lehmann-Horn F, Iaizzo PA, Franke C, Hatt H, Spaans F. Muscle Nerve . 1990 Jun;13(6):528-35.

"Single muscle fiber recordings in the Schwartz-Jampel syndrome". Jablecki C, Schultz P. Muscle Nerve . 1982;5(9S):S64-9.

"Schwartz-Jampel syndrome. Report of two cases and review of the literature". Plasencia A, Alpera R, Borrajo E, Fernandez CI, Martinez-Huguet F. An Esp Pediatr . 1980 Nov;13(11):1031-42.

"Schwartz-Jampel syndrome. A case report and review of literature". Lopez-Terradas JM, Castroviejo IP, Gutierrez M, Rodriguez Costa T. An Esp Pediatr . 1979 Apr;12(4):345-58.

"Chondrodystrophic myotonia versus Schwartz-Jampel Syndrome". Aberfeld DC. Ann Neurol . 1979 Feb;5(2):210.

"Schwartz-Jampel syndrome in two daughters of first cousins". Pavone L, Mollica F, Grasso A, Cao A, Gullotta F. J Neurol Neurosurg Psychiatry . 1978 Feb;41(2):161-9.

"Myotonic chondrodystrophy (or Schwartz-Jampel syndrome). Study of siblings and review of the literature". Desbois JC, Guyou J, Grenet P, Herrault A. Ann Pediatr (Paris) . 1977 Sep;24(8-9):563-74.

"Schwartz-Jampel syndrome". Iyer GV. Neurol India . 1975 Jun;23(2):105-8.

"Schwart-Jampel osteo-chondro-muscular dystrophy. 2 familial cases". Greze J, Baldet P, Dumas R, Cadilhac J, Pages A, Jean R. Arch Fr Pediatr . 1975 Jan;32(1):59-75.

"E.M.G. studies of two family cases of the Schwartz and Jampel syndrome (osteo-chondro-muscular dystrophy with myotonia)". Cadilhac J, Baldet P, Greze J, Duday H. Electromyogr Clin Neurophysiol . 1975 Jan-Apr;15(1):5-12.

"The Schwartz-Jampel syndrome. Its clinical, physiological and histological expressions". Fowler WM Jr, Layzer RB, Taylor RG, Eberle ED, Sims GE, Munsat TL, Philippart M, Wilson BW. J Neurol Sci . 1974 May;22(1):127-46.

"Picture of the month. Schwartz-Jampel syndrome (Aberfeld syndrome, chondrodystrophic myotonia)". Gellis SS, Feingold M, Dugan MC. Am J Dis Child . 1973 Sep;126(3):339-40.

"Continuous muscle fiber activity in the Schwartz-Jampel syndrome". Taylor RG, Layzer RB, Davis HS, Fowler WM Jr. Electroencephalogr Clin Neurophysiol . 1972 Nov;33(5):497-509.

"Myotonia, shortness of stature, and hip dysplasia. Schwartz-Jampel syndrome". Mereu TR, Porter IH, Hug G. Am J Dis Child . 1969 Apr;117(4):470-8.

"Congenital blepharophimosis associated with a unique generalized myopathy". SCHWARTZ O, JAMPEL RS. Arch Ophthalmol . 1962 Jul;68:52-7.

 

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