Neuromuscular Disorders: NMD 1992: Vol 2 Table of Contents

13 Pages·1992·1.9 MB·English

Neuromuscular
Disorders
Volume 2 1992
©
PERGAMON PRESS
OXFORD - NEWYORK - SEOUL - TOKYO
Neuromuscular Disorders
Editor-in-Chief
V Dubowitz
Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School,
Du Cane Road, London W12 ONN, UK (Tel: [phone]; Fax: [phone])
Associate Editors
R H Brown, Cecil B Day Laboratory for Neuromuscular | Nonaka, Division of Ultrastructural Research, National
Research, Massachusetts General Hospital-East, 149 Institute of Neuroscience, 4-1-1 Ogawa-higashi-
The Navy Yard, 13th Street, Charlestown, MA 02129, machi, Kodaira, Tokyo 187, Japan (Tel: [phone];
USA (Tel: [phone]; Fax: [phone]) Fax: [phone])
RH T Edwards, Muscle Research Centre, Department of SP Ringel, Department of Neurology, University of
Medicine, University of Liverpool, PO Box 147, Colorado Health Sciences Center B185, 4200 East
Liverpool L69 3BX, UK (Tel: [phone]; Fax: 051 Ninth Avenue, Denver, CO 80262, USA (Tel: 303 270
706 5802) 7221; Fax: [phone])
L Merlini, Neurofisiopatologia, Istituto Ortopedico FMS Tomé, INSERM U. 153, 17 rue du Fer 4 Moulin,
Rizzoli, Via C Pupilli 1, Bologna 40136, Italy 75005 Paris, France (Tel: [phone]; Fax: 1 43 37
(Tel: [phone]; Fax [phone]) 85 22)
Book Review Editor
AEH Emery, The Medical School, University of Edinburgh, Teviot Place, Edinburgh EH8 9AG, UK (Tel: [phone];
Fax: [phone])
Gene Table Editor
J C Kaplan, Laboratoire de Biochimie Génétique, Hépital Cochin-Maternités, 123 Boulevard de Port-Royal, 75014
Paris, France (Tel: [phone]; Fax: [phone])
Editorial Board
C Angelini, italy Y Fukuyama, Japan L P Rowland, USA
H Blau, USA J W Griffin, USA R Riidel, FRG
M H Brooke, Canada F Gros, France M Saraiva, Portugal
B J Cooper, USA | Hausmanowa-Petrusewicz, Poland H Sarnat, USA
F Cornelio, /taly K G F Henriksson, Sweden H Somer, Finland
K E Davies, UK F G| Jennekens, The Netherlands H Sugita, Japan
S Di Mauro, USA F Jerusalem, FRG G -J B Van Ommen, The Netherlands
AL Dubrovsky, Argentina B Kakulas, Australia G Vrbova, UK
L G Edstré6m, Sweden G Karpati, Canada Lord Walton, UK
M Fardeau, France D N Landon, UK D Yaffe, /srael
Production Editor
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Volume Contents
Volume 2 Number 1
:
V Dubowitz Commentary from the Editor
Workshop Reports
K Bushby Report on the 12th ENMC sponsored
international workshop—the ““limb-girdle”’
muscular dystrophies
M Swash, N Leigh and the Criteria for diagnosis of familial amyotrophic
European FALS Collaborative lateral sclerosis
Group
M Sendtner, G W Kreutzberg Workshop on trophic factors in the peripheral
and F G | Jennekens nervous system. Capri, October 1991
Research Papers
A J Waclawik, R L Sufit, Acute myopathy with selective degeneration of
B R Beinlich and H S Schutta myosin filaments following status asthmaticus
treated with methylprednisolone and vecuron-
ium
L Austin, M de Niese, Potential oxyradical damage and energy status
A McGregor, H Arthur, in individual muscle fibres from degenerating
A Gurusinghe and M K Gould muscle diseases
J Smeitink, A Stadhouders, Mitochondrial creatine kinase containing
R Sengers, W Ruitenbeek, crystals, creatine content and mitochondrial
R Wevers, H ter Laak and creatine kinase activity in chronic progressive
F Trijbels external ophthalmoplegia
M Fanin, G A Danieli, Prevalence of dystrophin-positive fibers in 85
L Vitiello, L Senter and Duchenne muscular dystrophy patients
C Angelini
M-P Chevron, S Tuffery, Becker muscular dystrophy: demonstration of
B Echenne, J Demaille and the carrier status of a female by immunoblotting
M Claustres and immunostaining
C G Cole, S J Abbs, Linkage of Emery-Dreifuss muscular dystrophy
V Dubowitz, S V Hodgson, to the red/green cone pigment (RGCP) genes,
J Warner, L Merlini and proximal to factor VIII
M Bobrow
Letter to the Editor
M Zatz, R C M Pavanello, 59 Steroids in Duchenne muscular dystrophy
M Vainzof and
M R Passos- Bueno
Neuromuscular Disorders:
Gene Location
Book Reviews
EAMDA News
Recent Publications on
Neuromuscular Disorders
Announcement
Volume 2 Number 2
Review Article
F Gros Gene therapy: present situation and future
prospects
Lesson for the Month
V Dubowitz Genetic counselling
Research Papers
L J Oliver, J-M Chatel, Molecular forms of acetylcholinesterase in
J Massoulié, M Vigny and dystrophic (mdx) mouse tissues
F M Vallette
C Minetti, F Beltrame, Dystrophin at the plasma membrane of human
G Marcenaro and E Bonilla muscle fibers shows a costameric localization
W Kress, E Muller, K Kausch, Multipoint linkage mapping of the Emery-
F Kullmann, M L Mostacciuolo, Dreifuss muscular dystrophy gene
M Rietschel, H W Rotthauwe,
B Schmalenberger, G Siciliano,
T Voit, U Langenbeck,
B Mulluer, G A Danieli,
K Zerres, C R Muller and
T Grimm
D Rapaport, A deletion including the brain promoter of the
M R Passos-Bueno, R | Takata, Duchenne muscular dystrophy gene is not
S Campiotto, S Eggers, associated with mental retardation
M Vainzof, A Makover,
U Nudel, D Yaffe and
M Zatz
G Miller, AH Beggs and Early onset autosomal dominant progressive
J Towfighi muscular dystrophy presenting in childhood asa
Becker phenotype—the importance of dystro-
phin and molecular genetic analysis
M Hirano, E Ricci, MELAS: an original case and clinical criteria for
M R Koenigsberger, diagnosis
R Defendini, S G Pavlakis,
D C DeVivo, S DiMauro and
L P Rowland
Meeting Report
S V Perry The Xp21 myopathies: current research and the
prospect for treatment
Neuromuscular Disorders:
Gene Location
Book Reviews
Recent Publications on
Neuromuscular Disorders
Erratum
Volume 2 Number 3
Review Articles
D J Wedel Malignant hyperthermia and neuromuscular
disease
R M Quinlivan and Cardiac transplantation in Becker muscular
V Dubowitz dystrophy
Research Papers
A Prelle, M Moggio, Congenital myopathy associated with abnormal
G P Comi, A Gallanti, accumulation of desmin and dystrophin
N Checcarelli, N Bresolin,
P Ciscato, F Fortunato and
G Scarlato
T R Helliwell, Nguyen thi Man, The dystrophin-related protein, utrophin, is ex-
G E Morris and K E Davies pressed on the sarcolemma of regenerating
human skeletal muscle fibres in dystrophies and
inflammatory myopathies
D D de Vries, C J M Buzing, Myopathology and a mitochondrial DNA deletion
W Ruitenbeek, in the Pearson marrow and pancreas syndrome
M P ME van der Wouw,
W Sperl, R C A Sengers,
J MF Trijbels and
B Avan Oost
L Merlini, S Bonfiglioli Stagni, Epidemiology of neuromuscular disorders in the
E Marri and C Granata under-20 population in Bologna province, Italy
L Merlini, D Dell’Accio, isokinetic muscle testing (IMT) in neuromuscular
A Holzl and C Granata diseases. Preliminary report
S Carpenter, G Karpati A chronic myopathy with coated vesicles and
and P Holland tubular masses
L Van Maldergem, M Espeel, Neonatal seizures and severe hypotonia in a male
R J A Wanders, F Roels, infant suffering from a defect in peroxisomal
P Gerard, E Scalais, p-oxidation
G P Mannaerts, M Casteels
and Y Gillerot
Letter to the Editor
G Miller Diagnostic criteria for Duchenne and Becker
muscular dystrophy
Neuromuscular Disorders:
Gene Location
Book Reviews
Recent Publications on
Neuromuscular Disorders
Volume 2 Number 4
Workshop Reports
D J Shaw and P S Harper Myotonic dystrophy: advances in molecular
genetics
B A Kakulas Recent progress in the molecular genetics of the
muscular dystrophies
Research Papers
G D Viadutiu, | Saponara, immunoquantitation of carnitine palmitoyl trans-
J M Conroy, R E Grier, L Brady ferase in skeletal muscle of 31 patients
and P Brady
J M Elek, A Kossev, R Dengler, Parameters of human motor unit twitches obtained
M Schubert, K Wohlfahrt and by intramuscular microstimulation
W Wolf
S V Hodgson, S Abbs, S Clark, Correlation of clinical and deletion data in Duchenne
A Manzur, J Z H Heckmatt, and Becker muscular dystrophy, with special
V Dubowitz and M Bobrow reference to mental ability
| Mahjneh, G Vannelli, A large inbred Palestinian family with two forms
K Bushby and G P Marconi of muscular dystrophy
vi
R Schiffmann, E Lahat and Severe periodic febrile myalgia in infancy due to
A Schechter carnitine palmitoyltransferase deficiency
Neuromuscular Disorders:
Gene Location
Book Reviews
EAMDA News
Recent Publications on
Neuromuscular Disorders
Volume 2 Number 5/6
Editorial
V Dubowitz Myoblast transfer in muscular dystrophy: panacea
or pie in the sky?
Research Papers
J Huard, A Satoh and Mosaic expression of dystrophin in the cerebellum
J P Tremblay of heterozygote dystrophic (mdx) mice
A Lombés, C Diaz, Analysis of the tissue distribution and inheritance
N B Romero, F Ziegler and of heteroplasmic mitochondrial DNA point
M Fardeau mutation by denaturing gradient gel electro-
phoresis in MERRF syndrome
C A Sewry, L A Wilson, Experimental regeneration in canine muscular
L Dux, V Dubowitz and dystrophy—1. Immunocytochemical evaluation of
B J Cooper dystrophin and £-spectrin expression
V M Kazakov Terminal intramuscular motor innervation and
motor end-plates in thyrotoxic myopathy
S J Valberg, G H Cardinet Ill, Polysaccharide storage myopathy associated with
G P Carlson and S DiMauro recurrent exertional rhabdomyolysis in horses
F Hentati, C Ben Hamida, Age-dependent axonal loss in nerve biopsy of
M Zeghal, M Kamoun, patients with xeroderma pigmentosum
B Fezaa and M Ben Hamida
C Billard, P Gillet, Cognitive functions in Duchenne muscular
J L Signoret, E Uicaut, dystrophy: a reappraisal and comparison with
P Bertrand, M Fardeau, spinal muscular atrophy
M A Barthez-Carpentier and
J J Santini
AY Manzur, S A Hyde, A randomized controlled trial of early surgery in
E Rodillo, J Z Heckmatt, Duchenne muscular dystrophy
G Bentley and V Dubowitz
T Deufel, W Miuller-Felber, Chronic myopathy in a patient suspected of carry-
D E Pongratz, G Hubner, ing two malignant hyperthermia susceptibility
K Johnson, P A laizzo and (MHS) mutations
F Lehmann-Horn
G Siciliano, B Rossi, Variability of the expression of muscle mito-
C Angelini, A Martinuzzi, chondrial damage in ocular mitochondrial myo-
R Carrozzo, G Bevilacqua, pathy
P Viacava, A Federico,
G M Fabrizi and A Muratorio
J C MacMillan, J Myring, Molecular analysis for the myotonic dystrophy
H G Harley, W Reardon, mutation in neuromuscular disorders
P S Harper and D J Shaw
Case Reports
| Hausmanowa-Petrusewicz, Unusual course of nemaline myopathy
A Fidzianska and B Badurska
P Tonin, G Tomelleri, M Vio Polyglucosan body myopathy: a new case
and N Rizzuto
Meeting Report
T L Munsat and K E Davies International SMA Consortium meeting
Letter to the Editor
| Hausmanowa-Petrusewicz, On chaos in classification of childhood spinal
B Badurska-Modrzycka and muscular atrophy
B Ryniewicz
Neuromuscular Disorders:
Gene Location
Book Reviews
Recent Publications on
Neuromuscular Disorders
Volume Contents, Author
Index and Key Word Index
for Volume 2
Author Index
Abbs, S. 51, 269 Echenne, B. 47
Aicardi, J. 65,232 Edwards, R.H.T. 293
Angelini,C. 41, 397 Eggers, S. 117
Arthur, H. 27 Elek,J.M. 261
Austin, L. 27 Emery, A. 65, 148, 294,
435
Badurska, B. 413 Espeel,M. 217
Badurska-Modrzycka, B. 429 European FALS Collaborative Group 7
Barthez-Carpentier, M. A. 371
Beggs, A.H. 121 Fabrizi,G. M. 397
Beinlich, B.R. 19 Fanin, M. 41
Beltrame, F. 99 Fardeau, M. 323, 371
Ben Hamida,C. 361 Federico, A. 397
Ben Hamida, M. 361 Fezaa,B. 361
Bentley,G. 379 Fidzianska, A. 413
Bertrand, P. 371 Fortunato, F. 169
Bevilacqua,G. 397
Billard, C. 371 :
Bobrow,° M° . J 51, 269 Gal¢ la2 nt, A. 1669
Bonfig“fe lioli thm StaSgegnai ,S. 197 Gerard, P. 2177
. Gillerot, Y. 217
Bonilla, E. 99 :
Gillet, P. 371
Brady, L. 249
Brady. P. 249 Gould, M. K. 27
+ a. ¢ 4
Bresolin. N. 169 Granata,C. 197, 201
Brumback, R.A. 155 e} e a9 e
Bushby, K. 3,277 rimm, T. 111
y, ai
Buzing, C.J.M. 185 Gros, F. 75
aamenen Gurusinghe, A. 27
Campiotto, S. 117
a 0l,G.H. 351 Harley, H.G. 405
Carlson.G.P. 351 Harper, P.S. 241, 405
Carpenter, S. 209 Harriman, D. 67, 147, 149,
Carrozzo, R. 397 233, 436 :
Casteels.M. 217 Hausmanowa-Petrusewicz, I. 413, 429
Chatel. J.-M. 87 Heckmatt, J.Z.H. 269, 379
Checcarelli, N. 169 Helliwell, T. R. 177
Chevron, M.-P. 47 Hentati, F. 361
Ciscato, P. 169 Hirano, M. 125
Clark. S. 269 Hodgson, S. V. 51, 269
Claustres,M. 47 Holland, P. 209
Cole,C.G. 51 Holzl, A. 201
Comi,G. P. 169 Huard,J . 311
Conroy, J.M. 249 Hiibner, G. 389
Cooper, B. J. 331 Hyde, S.A. 379
Coulter,C.L. 155 ;
laizzo,P. A. 389
Danieli,G. A. 41, 111
Davies, K. E. 177, 423 Jennekens, F.G.I1. 11
Defendini,R. 125 Johnson, K. 389
Dell'Accio,D . 201
Demaille,J . 47 Kakulas, B. A. 245
Dengler,R. 261 Kamoun,M . 361
Dennis, M. 295 Karpati,G. 209
Deufel, T. 389 Kausch, K. 111
DeVivo,D.C. 125 Kazakov, V.M. 343
Diaz,C. 323 Koenigsberger, M.R. 125
DiMauro, S. 125, 351 Kossev, A. 261
Dubowitz, V. 1,51, 85, 165, Kress, W. 111
269, 305, 331, 379 Kreutzberg,G. W. 11
Dux,L. 331 Kullmann, F. 111
Laak, H.ter 35 Santini, J.J. 371
Lahat, E. 285 Saponara, 1. 249
Langenbeck, U. 111 Satoh, A. 311
Leech, R. W. 155 Scalais, E. 217
Lehmann-Horn, F. 389 Scarlato,G. 169
Leigh, N. 7 Schechter, A. 285
Lombés, A. 323 Schiffmann, R. 285
Schmalenberger, B. 111
MacMillan, J.C. 405 Schubert, M. 261
Mahjneh, 1. 277 Schutta,H.S. 19
Makover, A. 117 Sendtner, M. 11
Mannaerts,G. P. 217 Sengers, R. 35, 185
Manzur, A. 269, 379 Senter,L. 41
Marcenaro,G. 99 Sewry,C. A. 331
Marconi, G. P. 277 Shaw, D. J. 241, 405
Marri, E. 197 Siciliano,G. 111, 397
Martin, J.J. 66, 435 Signoret,J.L. 371
Martinuzzi, A. 397 Smeitink, J. 35
Massoulié, J. 87 Sperl, W. 185
Matthews, P.M. 66 Stadhouders, A. 35
McGregor, A. 27 Stark,G.D. 232
Merlini, L. 51, 197, 201 Sufit,R.L. 19
Miller,G. 121,225 Swash, M. 7
Minetti, C. 99
Moggio, M. 169 Takata, R.1I. 117
Morris, G. E. 177 Tomelleri,G. 419
Mostacciuolo, M.L. 111 Tonin, P. 419
Miiller,C.R. 111 Towfighi, 5. 121
Miiller,E. 111 Tremblay, J.P. 311
Miiller-Felber, W. 389 Trijbels, J. M.F. 35, 185
Miilluer, B. 111 Tuffery,S. 47
Munsat, T.L. 148, 423
Muratorio, A. 397 Vicaut, E. 371
Myring, J. 405
Vainzof,M. 59,117
Nguyen thi Man 177 Valberg, S.J. 351
Niese, M.de 27 Vallette, F. M. 87
Nudel, U. 117 Van Maldergem, L. 217
Vannelli,G. 277
Oliver, L. J. 87 Viacava, P. 397
Oost, B. A. van 185 Vigny, M. 87
Vio, M. 419
Passos-Bueno, M.R. 59, 117 Vitiello, L. 41
Pavanello,R.C.M. 59 Viadutiu,G. D. 249
Pavlakis,S.G. 125 Voit, T. 111
Perry,S. V. 137 Vries, D.D. de 185
Pongratz,D. 147, 389
Prelle, A. 169 Waclawik, A.J. 19
Wanders, R.J. A. 217
Quinlivan, R.M. 165 Warner, J. 51
Wedel, D.J. 157
Rapaport, D. 117 Wevers, R. 35
Read, A. P. 231 Whittle, I. R. 293
Reardon, W. 405 Wilson, L. A. 331
Ricci, E. 125 Wohlfahrt, K. 261
Rietschel, M. 111 Wolf, W. 261
Rizzuto, N. 419 Wouw, M. P. M. E. van der 185
Rodillo, E. 379
Roels, F. 217 Yaffe,D. 117
Romero, N. B. 323
Rossi, B. 397 Zatz,M. 59, 117
Rotthauwe,H. W. 111 Zeghal, M. 361
Rowland, L. P. 125 Zerres, K. 111
Ruitenbeek, W. 35, 185 Ziegler, F. 323
Ryniewicz, B. 429