Neuromuscular Disorders: NMD 1993: Vol 3 Table of Contents

15 Pages·1993·3.4 MB·English

Volume Contents
Volume 3 Number 1
V Dubowitz 1 Commentary from the Editor
Editorial Comment
H B Sarnat Does increased desmin in myofibres constitute a
storage disease?
Review Article
D R Love, B C Byth, Dystrophin and dystrophin-related proteins: a
JM Tinsley, D J Blake review of protein and RNA studies
and K E Davies
Research Papers
L Dux, B J Cooper, C A Sewry 23 Notechis scutatus venom increases the yield of
and V Dubowitz proliferating muscle cells from biopsies of normal
and dystrophic canine muscle—a possible source
for myoblast transfer studies
N B Romero, C Marsac, 31 Infantile familial cardiomyopathy due to mito-
M Paturneau-Jouas, chondrial complex | and IV associated deficiency
H Ogier, S Magnier
and M Fardeau
C T Moraes, F Ciacci, 43 Atypical clinical presentations associated with the
G Silvestri, S Shanske, MELAS mutation at position 3243 of human
M Sciacco, M Hirano, mitochondrial DNA
E A Schon, E Bonilla
and S DiMauro
Q H Leyten, W O Renier, 51 Dystrophic myopathy of the diaphragm in a neonate
F J M Gabreéls, H J ter Laak with severe respiratory failure during infectious
and LH A Hinkofer episodes
K M D Bushby, J A Goodship, 57 Variability in clinical, genetic and protein abnor-
LV B Nicholson, M A Johnson, malities in manifesting carriers of Duchenne and
| D Haggerty and Becker muscular dystrophy
D Gardner-Medwin
L Morandi, M Mora, 65 Very small dystrophin molecule in a family with a
P Bernasconi, R Mantegazza, mild form of Becker dystrophy
M Gebbia, M R Balestrini
and F Cornelio
M Sparaco, G Rosoklija, Immunolocalization of heat shock proteins in
K Tanji, M Sciacco, N Latov, ragged-red fibers of patients with mitochondrial
S DiMauro and E Bonilla encephalomyopathies
Workshop Reports
M de Visser Diagnostic criteria for autosomal dominant
hereditary motor and sensory neuropathy type la
K H Fischbeck Charcot-Marie—Tooth disease type 1A, 9 November
1992, San Francisco, CA, U.S.A.
Neuromuscular Disorders:
Gene Location
Book Reviews
EAMDA News
Recent Publications on
Neuromuscular Disorders
Announcement
Volume 3 Number 2
Review Articles
B Fontaine Periodic paralysis, myotonia congenita and sarco-
lemmal ion channels: a success of the candidate
gene approach
K Matsumura and Deficiency of dystrophin-associated proteins: a
K P Campbell common mechanism leading to muscle cell
necrosis in severe childhood muscular dystrophies
Research Papers
M Fanin, E P Hoffman, Dystrophin-positive myotubes in innervated
F A Saad, A Martinuzzi, muscle cultures from Duchenne and Becker
G A Danieli and C Angelini muscular dystrophy patients
A Messer and J Plummer Accumulating autofluorescent material as a
marker for early changes in the spinal cord of the
Mnd mouse
M Vainzof, L V B Nicholson, Sarcolemmal distribution of abnormal dystrophin
D E Bulman, A M Tsanaclis, in Xp21 carriers
M R Passos-Bueno,
R C M Pavanello and M Zatz
C A Sewry, A Sansome, Manifesting carriers of Xp21 muscular dystrophy;
A Clerk, T G Sherratt, lack of correlation between dystrophin expression
N Hasson, E Rodillo, and clinical weakness
J Z Heckmatt, P N Strong
and V Dubowitz
K Borg, G Ahlberg, Muscle fibre degeneration in distal myopathy
B Hedberg and L Edstrom (Welander)—ultrastructure related to immuno-
histochemical observations on_ cytoskeletal
proteins and Leu-19 antigen
J Goto, D A Figlewicz, The glycinamide ribonucleotide transformylase
J L Haines, RH Brown Jr, (GART) gene is not responsible for familial amyo-
N Khodr and G A Rouleau trophic lateral sclerosis
Workshop Report
F Lehmann-Horn, R Rudel Non-dystrophic myotonias and periodic paralyses
and K Ricker
Meeting Report
P Amati, G Cossu and Molecular biology and pathology of skeletal and
S Schiaffino cardiac myogenesis
Neuromuscular Disorders:
Gene Location
Book Reviews
Volume 3 Number 3
Review Article
P Shillito, A Vincent and Congenital Myasthenic Syndromes
J Newsom-Davis
Research Papers
A L Shanske, S Shanske, MELAS point mutation with unusual clinical
G Silvestri, K Tanji, presentation
D Wertheim and S Lipper
O Garofalo, D A Figlewicz, Androgen receptor gene polymorphisms in amyo-
P N Leigh, J F Powell, trophic lateral sclerosis
V Meininger, M Dib and
G A Rouleau
A A Chenard, H M Becane, Ventricular arrhythmia in Duchenne muscular
F Tertrain, J M de Kermadec dystrophy: prevalence, significance and prognosis
and Y A Weiss
C Granata, S Cervellati, Spine surgery in spinal muscular atrophy: long-
A Ballestrazzi, M Corbascio term results
and L Merlini
R Quinlivan, S Robb, Congenital sensory neuropathy in association
R AC Hughes, S M Hall and with ichthyosis and anterior chamber cleavage
D Calver syndrome
Vv
Case Reports
J M Land, G J Kemp, 223 Oral phosphate supplements reverse skeletal
D J Taylor, S J Standing, muscle abnormalities in a case of chronic fatigue
G K Radda and B Rajagopalan with idiopathic renal hypophosphatemia
K Nishiyama, H Kurisaki, 227 Carcinomatous neuropathy associated with hepatic
N Masuda, S Kusunoki and cell carcinoma: an autopsy case report
M Takatsu
Workshop Reports
G J B van Ommen and 231 Neonatal screening for muscular dystrophy
G Scheuerbrandt
S Abbs and M Bobrow 241 Report on the 16th ENMC workshop—Carrier diag-
nosis of Duchenne and Becker muscular dystrophy
Neuromuscular Disorders: 243
Gene Location
Book Reviews 249
EAMDA News 253
Recent Publications on 255
Neuromuscular Disorders
Volume 3 Number 4
Editorial
V Dubowitz 261 Meryon’s disease
Historical
AEH Emery Duchenne muscular dystrophy—Meryon’s disease
Research Papers
E Wischmeyer, E Nolte, 267 Development of electrical myotonia in the ADR
R Klocke, H Jockusch and mouse: role of chloride conductance in myotubes
H Brinkmeier and neonatal animals
M J Bonifacio, D Ezzeddine, Retrovirus-mediatgeende transfer of transthyretin
Y Sakaki, X O Breakfield and and transthyretin—methionine 30: a potential tool
M J Saraiva for the study of amyloidogenesis
A Leclerc, F M S Tomé and Ubiquitin and B-amyloid-protein in inclusion body
M Fardeau myositis (IBM), familial IBM-like disorder and
oculopharyngeal muscular dystrophy: an immuno-
cytochemical study
H B Sarnat, P Diadori and Myopathy of the Proteus syndrome: hypothesis of
CL Trevenen muscular dysgenesis
vi
K Nakamura, K Arahata, Degradative activity of granzyme A on skeletal
S Ishiura, M Osame and muscle proteins in vitro: a possible molecular
H Sugita mechanism for muscle fiber damage in polymyositis
M Takemitsu, K Murayama, Monomelic muscle atrophy
T Saga, N Michihiro,
H Shiihara, M Kimizuka and
| Nonaka
LF GM Hesselmans, Evaluation of electrophysiological and clinical tests
G H Wieneke, P L Oey, in an exploratory trial of Org 2766 in motor neuron
D M Groenhout, disease
Y van der Graaf, W H Gispen
and F GI Jennekens
J M Cobben, H Scheffer, Linkage and apparent heterogeneity in proximal
M De Visser, J Osinga, spinal muscular atrophies
R Frants, G van der Steege,
C Wijmenga, L P ten Kate,
G-J B van Ommen and
CHCM Buys
Case Report
J Dinger and B Prager Arthrogryposis multiplex in a newborn of a
myasthenic mother—case report and literature
Neuromuscular Disorders:
Gene Location
Book Reviews
Volume 3 Number 5/6
THE PROCEEDINGS OF THE 5th NATIONAL
COLLOQUIUM ON NEUROMUSCULAR DISEASES
Editorial
V Dubowitz 351 Selected proceedings of Strasbourg meeting
Meeting Report
J L Mandel 353 The 5th National Colloquium on Neuromuscular
Diseases, Strasbourg, 21-25 June 1993
C Cifuentes-Diaz, M Nicolet, 361 N-cadherin and N-CAM-mediated adhesion in
D Goudou, F Rieger and development and regeneration of skeletal muscle
R M Meége
J-P Lefaucheur and A Sébille The basic fibroblast growth factor-saporin mito-
toxin impairs in vivo skeletal regeneration follow-
ing injury
V Mouly, F Edom, J P Barbet Plasticity of human satellite cells
and G S Butler-Browne
C Lagord, G Carpentier, Stimulation of rat satellite cell myogenesis by inhi-
M-P Leibovitch, J Gautron bitors of ser/thr protein kinases
and | Martelly
C Rucker-Martin, S Hatem, 385 Behaviour of human atrial myocytes in culture is
| Dubus, L Mace, J L Samuel donor age dependent
and J J Mercadier
P A M Roest, R G Roberts, 391 Protein truncation test (PTT) to rapidly screen the
A C van der Tuijn, J C Heikoop, DMD gene for translation terminating mutations
G-J B van Ommen and
J T den Dunnen
C Colasante, M O Brouard 395 Synaptophysin (p38) immunolabelling at the mouse
and M Pécot-Dechavassine neuromuscular junction
P Rouanet and F Bacou 401 Changes in fibre type, metabolic character and
acetylcholinesterfaorsmes in rabbit skeletal muscle
following stretch and electrical stimulation
R M Krause, L Bernheim 407 Human skeletal muscle has a voltage-gated proton
and C-R Bader current
N Naffakh, C Pinset, 413 Transplantation of adult-derived myoblasts in
D Montarras, C Pastoret, mice following gene transfer
O Danos and J M Heard
L Lescaudron, Z Li, D Paulin 419 Desmin-lacZ transgene, a marker of regenerating
and J Fontaine-Perus skeletal muscle
Z Li, E Colucci, C Babinet 423 The human desmin gene: a specific regulatory
and D Paulin programme in skeletal muscle both in vitro and
in transgenic mice
J-Y Devaux, L Cabane, Non-invasive evaluation of the cardiac function in
M Esler, H Flaouters and Golden Retriever dogs by radionuclide angiography
D Duboc
B Gillet, B-T Doan, 433 In vivo 2D 'H NMR of mdx mouse muscle and
C Verre-Serrie, B Barbere, myoblast cells during fusion: evidence for a char-
G Berenger, S Morin, J Koenig, acteristic signal of long chain fatty acids
M Peres, A Sebille and
J-C Beloeil
N Le Jeune, E Le Rumeur, 439 In vivo *‘P NMR assessed effects of dantrolene on
P Lacroix and J D de Certaines mechanics and energy metabolism in tetanic stimu-
lated rat gastrocnemius
C Barjot, O Jbilo, AChatonnet 443 Expression of acetyicholinesterase gene during
and F Bacou in vitro differentiation of rabbit muscle satellite
cells
P Vigneron, O Jbilo and Localization of acetyicholinesterase activity and
A Chatonnet mRNA in the rabbit embryo between 10 and 15 days
viii
P David, N Martin-Moutot, Interaction of synaptotagmin with voltage gated
C Leveque, O El Far, calcium channels: a role in Lambert-Eaton myas-
M Takahashi and M J Seagar thenic syndrome?
C E Henderson, Motoneuron survival factors: biological roles and
E Bloch-Gallego, W Camu, therapeutic potential
A Gouin, C Lemeulle and
C Mettling
J Chapron and J Koenig A rapid method of freezing biopsied muscle: in
vitro study development
J P Louboutin, Morphometric analysis of mdx diaphragm muscle
V Fichter-Gagnepain, fibres. Comparison with hindlimb muscles
E Thaon and M Fardeau
C Pastoret and A Sebille Further aspects of muscular dystrophy in mdx mice
M Akaaboune, J Ma, The influence of denervation on B-amyloid protein
B W Festoff, B D Greenberg precursor and g,-antichymotrypsin in mouse skele-
and D Hantai tal muscle
E Dausse and K Schwartz Genetic heterogeneity of familial hypertrophic
cardiomyopathy
C Wijmenga, R R Frants, 487 Molecular genetics of facioscapulohumeral mus-
J E Hewitt, J C T van Deutekom, cular dystrophy
M van Geel, T J Wright,
G W Padberg, M H Hofker and
G-J B van Ommen
P Malzac, A Moncla, Prader-Willi syndrome: diagnostic strategy with
M A Voelckel, M O Livet, a cytogenetic and molecular approach
L Girardot, M G Mattei and
J F Mattei
H Hofmann-Radvanyi and Myotonic dystrophy: over-expression or/and under-
C Junien expression? Acritical review on a controversial point
G S Bewick, L V B Nicholson, Relationship of a dystrophin-associated glyco-
C Young and C R Slater protein to junctional acetylcholine receptor clusters
in rat skeletal muscle
F Pons, L V B Nicholson, Dystrophin and dystrophin-related protein (utro-
A Robert, T Voit and phin) distribution in normal and dystrophin-
J J Leger deficient skeletal muscles
D Jung, D Filliol, Characterization and subcellular localization of the
M-H Metz-Boutigue and dystrophin-protein 71 (Dp71) from brain
A Rendon
M Lambert, P Chafey, Expression of the transcripts initiated in the 62nd
J P Hugnot, A Koulakoff, intron of the dystrophin gene
Y Berwald-Netter, C Billard,
G E Morris, A Kahn,
J C Kaplan and H Gilgenkrantz
LV B Nicholson The “rescue” of dystrophin synthesis in boys with
Duchenne muscular dystrophy
K Matsumura, K Ohlendieck, The role of the dystrophin-glycoprotein com-
V V lonasescu, F MS Tomé, plex in the molecular pathogenesis of muscular
| Nonaka, AH M Burghes, dystrophies
M Mora, J-C Kaplan, M Fardeau
and K P Campbell
J M Tinsley and K E Davies Utrophin: a potential replacement for dystrophin?
A Caron, F Chapon, Inclusions in familial cytoplasmic body myopathy
C Berthelin, F Viader and are stained by anti-dystrophin antibodies
B Lechevalier
N B Romero, Y Nivoche, Malignant hyperthermia and central core disease:
J Lunardi, B Bruneau, analysis of two families with heterogeneous
M A Cheval, D Hillaire and clinical expression
M Fardeau
D Figarella-Branger, Pathological findings in 165 patients explored for
G Kozak-Ribbens, L Rodet, malignant hyperthermia susceptibility
M Aubert, J Borsarelli,
P J Cozzone and J F Pellissier
B Eymard, J C Brouet, Late-onset rod myopathy associated with mono-
H Collin, M Chevallay, clonal gammopathy
A Bussel and M Fardeau
C Tranchant, B Mousson, Cardiac transplantation in an incomplete Kearns-
M Mohr, R Dumoulin, Sayre syndrome with mitochondrial DNA deletion
M Welsch, C Weess,
G Stepien and J M Warter
A Sansome, P Royston and Steroids in Duchenne muscular dystrophy; pilot
V Dubowitz study of a new low-dosage schedule
S Ayme, G Macquart-Moulin, Diffusion of information about genetic risk within
C Julian-Reynier, F Chabal families
and F Giraud
S C Blumen, P Nisipeanu, Clinical features of oculopharyngeal muscular
M Sadeh, A Asherov, dystrophy among Bukhara Jews
F MS Tomé and AD Korczyn
M B Delisle, M Laroche, Morphological analyses of paraspinal muscles:
H Dupont, P Rochaix and comparison of progressive lumbar kyphosis
J LRumeau (camptocormia) and narrowing of lumbar canal
by disc protrusions
Xx
JP Tremblay, J P Bouchard, 583 Myoblast transplantation between monozygotic
F Malouin, D Théau, F Cottrell, twin girl carriers of Duchenne muscular dystrophy
H Collin, A Rouche,
S Gilgenkrantz, N Abbadi,
M Tremblay, F MS Tomé and
M Fardeau
M Coquet, F Degoul, A Vital, 593 MERRF family with 8344 mutation in tRNA (lys).
M Malgat, J P Mazat, Evidence of a mitochondrial vasculopathy in
C Louvet-Giendaj, D Fontan, muscle biopsies
F Tison, M Diry and C Marsac
M F Bouzidi, H Schagger, 599 Decreased expression of ubiquinol-cytochrome c
J-M Collombet, H Carrier, reductase subunits in patients exhibiting mito-
F Flocard, S Quard, B Mousson chondrial myopathy with progressive exercise
and C Godinot intolerance
T Bourgeron, D Chretien, 605 Expression of respiratory chain deficiencies in
P Amati, A Rotig, A Munnich human cultured cells
and P Rustin
Author Index
Abbadi, N. 583 Chapron, J. 459 Fischbeck, K.H. 81
Abbs, S. 241 Chariot, P. 252 Flaouters, H. 429
Ahlberg, G. 149 Chatonnet, A. 443, 447 Flocard, F. 599
Akaaboune, M. 477 Chenard, A. A. 201 Fontaine, B. 101
Amati, P. 169, 605 Cheval, M. A. 547 Fontaine-Perus, J. 419
Angelini, C. 119 Chevallay, M. 557 Fontan, D. 593
Arahata, K. 303 Chretien, D. 605 Frants, R. 327, 487
Asherov, A. 575 Ciacci, F. 43
Aubert, M. 553 Cifuentes-Diaz, C. 361 Gabreéls, F.J. M. 51
Ayme, S. 571 Clerk, A. 141 Gardner-Medwin, D. 57
Cobben, J. M. 327
Garofalo, O. 195
Babinet, C. 423 Colasante, C. 395 Gautron, J. 379
Bacou, F. 401, 443 Collin, H. 557, 583 Gebbia, M. 65
Bader, C.-R. 407 Collombe, J.-M. 599 Geel, M. van 487
Balestrini, M.R. 65 Colucci, E. 423 Gilgenkrantz, H. 519
Ballestrazzi, A. 207 Cooper, B. J. 23 Gilgenkrantz, S. 583
Barbere, B. 433 Coquet, M. 593
Gillet, B. 433
Barbet, J.P. 371 Corbascio, M. 207
Girardot, L. 493
Barjot,C. 443 Cornelio, F. 65
Giraud, F. 571
Becane, H. M. 201 Cossu, G. 169 Gispen, W.H. 319
Beloeil, J.-C. 433 Cottrel, F. 583 Godinot, C. 599
Bentley, G. 89 Cozzone, P. J. 553 Goodship, J. A. 57
Berenger, G. 433
Gordon, N. 349
Bernasconi, P. 65 Danieli,G. A. 119 Goto, J. 157
Bernheim, L. 407 Danos, O. 413 Goudou, D. 361
Berthelin, C. 541 Dausse, E. 483 Gouin, A. 455
Berwald-Netter, Y. 519 David, P. 451 Graaf, Y. vander 319
Bewick, G. S. 503 Davies, K. E. 5, 537 Granata, C. 207
Billard, C. 519 De Visser, M. 327 Greenberg, B.D. 477
Blake, D. J. 5 Degoul, F. 593 Groenhout, D. M. 319
Bloch-Gallego, E. 455 Delisle, M. B. 579
Blumen, S.C. 575 Deutekom, J.C. T. van 487
Haggerty, 1I.D. 57
Bobrow, M. 241 Devaux, J.-Y. 429
Haines, J.L. 157
Bonifacio, M. J. 275 Diadori, P. 293
Hall,S.M. 217
Bonilla, E. 43, 71 Dib, M. 195
Borg, K. 149 DiMauro, S. 43, 71 Hantai,D. 477
Borsarelli, J. 553 Dinger, J. 335 Hasson, N. 141
Hatem, S. 385
Bouchard, J.P. 583 Diry, M. 593
Bourgeron, T. 605 Doan, B.-T. 433 Heard, J.M. 413
Heckmatt, J.Z. 141
Bouzidi, M. F. 599 Duboc, D. 429
Hedberg, B. 149
Breakfield, X.O. 275 Dubowitz, V. 1, 23, 141, 181,
Heikoop, J.C. 391
Brinkmeier, H. 267 261, 351, 567
Henderson, C.E. 455
Brouard, M.O. 395 Dubus, I. 385
Hesselmans, L.F.G.M. 319
Brouet, J.C. 557 Dumoulin, R. 561
Hewitt, J.E. 487
Brown, R.H. Jr 157 Dunnen, J.T. den 391
Hillaire, D. 547
Bruneau, B. 547 Dupont, H. 579
Hilton-Jones, D. 250
Bulman, D.E. 135 Dux, L. 23
Burghes, A.H. M. 533 Hinkofer, L.H. A. 51
Bushby, K.M. D. 57 El Far,O. 451 Hirano, M. 43
Hoffman, E.P. 119
Bussel, A. 557 Edom, F. 371
Hofker, M.H. 487
Butler-Browne, G. S. 371 Edstrém, L. 149
Hofmann-Radvanyi, H. 497
Buys, C.H.C.M. 327 Edwards, R. 91
Hughes, R. A.C. 217
Byth, B.C. 5 Emery, A. E.H. 179, 180, 249,
Hugnot, J.P. 519
251, 263, 347, 349
Cabane, L. 429 Esler, M. 429
Calver, D. 217 Eymard, B. 557 Ionasescu, V. V. 533
Campbell, K.P. 109, 533 Ezzeddine, D. 275 Ishiura, S. 303
Camu, W. 455
Caron, A. 541 Fanin, M. 119 Jbilo,O. 443, 447
Carpentier,G. 379 Fardeau, M. 31, 283, 463, 533, Jennekens, F. G.I. 251, 319
Carrier, H. 599 547, 557, 583 Jianxian Ma 477
Certaines, J.D.de 439 Festoff, B.W . 477 Jockusch, H. 267
Cervellati, S. 207 Fichter-Gagnepain, V. 463 Johnson, M. A. 57
Chabal, F. 571 Figarella-Branger, D. 553 Julian-Reynier, C. 571
Chafey, P. 519 Figlewicz, D. A. 157, 195 Jung, D. 515
Chapon, F. 541 Filliol, D. 515 Junien, C. 497