Neuromuscular Disorders: NMD 2006: Vol 16 Table of Contents

2006·2.2 MB·English

PERGAMON Neuromuscular Disorders 16 (2006) 894-900
www.elsevier.com/locate/nmd
Volume Contents
Volume 16 Number 1 January 2006
Commentary from the Editor Temporal and spatial MRNA expression patterns of TGF-
61, 2, 3 and TBRI, Il, Ill in skeletal muscles of mdx mice
Research papers L. Zhou, J.D. Porter, G. Cheng, B. Gong, D.A. Hatala, A.P.
Facing the genetic heterogeneity in neuromuscular Merriam, X. Zhou, J.A. Rafael, H.J. Kaminski
disorders: Linkage analysis as an economic diagnostic
approach towards the molecular diagnosis Carbonic anhydrase inhibitors ameliorate the symptoms
M. von der Hagen, J. Schaliner, A.M. Kaindl, K. Koehler, of hypokalaemic periodic paralysis in rats by opening the
P. Mitzscherling, A. Abicht, U. Grieben, R. Korinthenberg, muscular Ca?*-activated-K* channels
W. Kress, A. von Moers, J.S. Muller, U. Schara, M. Vorgerd, D. Tricarico, A. Mele, D. Conte Camerino
M.C. Walter, C. Muller-Reible, C. Hibner, H. Lochmiller,
A. Huebner Workshop reports
127th ENMC International Workshop: Implementation of
Clinical, electrophysiological and molecular genetic a European Registry of ALS Naarden, The Netherlands,
studies in a family with X-linked dominant Charcot— 8-10 October 2004
Marie—Tooth neuropathy presenting a novel mutation in E. Beghi
GJB1 Promoter and a rare polymorphism in LITAF/
SIMPLE 138th ENMC Workshop: Nemaline Myopathy, 20-22 May
K. Beauvais, A. Furby, P. Latour 2005, Naarden, The Netherlands
C. Wallgren-Pettersson, N.G. Laing
Novel frameshift and splice site mutations in the
neurotrophic tyrosine kinase receptor type 1 gene Letters to the Editor
(NTRK1) associated with hereditary sensory neuropathy Clinical or subclinical cardiac involvement in
type IV facioscapulohumeral muscular dystrophy
N. Verpoorten, K.G. Claeys, L. Deprez, A. Jacobs, J. Finsterer, C. Stdllberger
V.V. Gerwen, L. Lagae, W.F. Arts, L.D. Meirleir, K. Keymolen,
C.C.-d. Groote, P.D. Jonghe, V. Timmerman, E. Nelis Reply to Finsterer and Stoliberger
F. Galetta, F. Franzoni
Rapidly progressive neurodegeneration in a case with
the 7472insC mutation and the A7472C polymorphism in Gene Table: Gene Location
the mtDNA tRNAS*"YS®) gene
E. Cardaioli, P.D. Pozzo, A. Cerase, F. Sicurelli, Instructions to Authors
A. Malandrini, N.D. Stefano, M.L. Stromillo, C. Battisti,
M.T. Dotti, A. Federico
Volume 16 Number 2 February 2006
Research papers Health related quality of life in people with hereditary
Reliability of the Hammersmith functional motor scale for neuromuscular diseases: An investigation of test-retest
spinal muscular atrophy in a multicentric study agreement with comparison between two generic
E. Mercuri, S. Messina, R. Battini, A. Berardinelli, P. Boffi, questionnaires, the Nottingham health profile and the
R. Bono, C. Bruno, N. Carboni, C. Cini, F. Colitto, A. D’Amico, short form-36 items
C. Minetti, M. Mirabella, T. Mongini, L. Morandi, N. Dlamini, F. Boyer, |. Morrone, |. Laffont, O. Dizien, J.C. Etienne,
S. Orcesi, M. Pelliccioni, M. Pane, A. Pini, A.V. Swan, J.L. Novella
M. Villanova, G. Vita, M. Main, F. Muntoni, E. Bertini
Service provision for adults with long-term disability:
A review of services for adults with chronic
neuromuscular conditions in the United Kingdom
M.E. Hill, M.F. Phillips
doi:10.1016/S0960-8966(06)00619-5
Volume contents
Autosomal dominant nemaline myopathy with Predictive value of serum anti-C1q antibody levels in
intranuclear rods due to mutation of the skeletal muscle experimental autoimmune myasthenia gravis
ACTAT71 gene: Clinical and pathological variability within E. Tuzun, S.S. Saini, S. Ghosh, J. Rowin, M.N. Meriggioli,
a kindred P. Christadoss
D.O. Hutchinson, A. Charlton, N.G. Laing, B. Ilkovski,
K.N. North Eosinophilic fasciitis in a child mimicking a myopathy
S. Pillen, B.v. Engelen, F.v.d. Hoogen, T. Fiselier,
BSCL2 mutations in two Dutch families with overlapping P.v.d. Vossen, G. Drost
Silver syndrome-distal hereditary motor neuropathy
B.P.C. van de Warrenburg, H. Scheffer, J.J.J. van Eijk, Workshop report
M.H.A. Versteeg, H. Kremer, M.J. Zwarts, H.J. Schelhaas, 131st ENMC International workshop: Selection of
B.G.M. van Engelen Outcome Measures for Peripheral Neuropathy Clinical
Trials. 10-12 December 2004, Naarden, The Netherlands
Brachial plexus hypertrophy in chronic inflammatory I.S.J. Merkies, G. Lauria
demyelinating polyradiculoneuropathy
L.J. Bradley, T. Wilhelm, R.H.M. King, L. Ginsberg, Book review
R.W. Orrell
Instructions to Authors
Carriers and patients with muscle—eye—brain disease can
be rapidly diagnosed by enzymatic analysis of
fibroblasts and lymphoblasts
J. Vajsar, W. Zhang, W.B. Dobyns, D. Biggar, K.R. Holden,
C. Hawkins, P. Ray, A.H. Olney, C.M. Burson,
A.K. Srivastava, H. Schachter
Volume 16 Number 3 March 2006
Research papers improvement in survival and muscle function in an mdx/
Diaphragmatic function in advanced Duchenne muscular utrn' ~ double mutant mouse using a human retinal
dystrophy dystrophin transgene
J. Beck, J. Weinberg, C.-H. Hamnegard, J. Spahija, R. Gaedigk, D.J. Law, K.M. Fitzgerald-Gustafson,
J. Olofson, G. Grimby, C. Sinderby S.G. McNulty, N.N. Nsumu, A.C. Modrcin, R.J. Rinaldi,
D. Pinson, S.C. Fowler, M. Bilgen, J. Burns, S.D. Hauschka,
Variability and failure of neurotransmission in the R.A. White
diaphragm of mdx mice
K.E. Personius, R.P. Sawyer Wheelchair economy class syndrome in amyotrophic
lateral sclerosis
A new mutation in PRKAG2 gene causing hypertrophic F. Kimura, S. Ishida, D. Furutama, Y. Hirata, T. Sato,
cardiomyopathy with conduction system disease and T. Hosokawa, T. Hanafusa
muscular glycogenosis
P. Laforét, P. Richard, M.A. Said, N.B. Romero, E. Lacene, Muscle inflammation, autoimmune Addison’s disease
J.-P. Leroy, C. Baussan, J.-Y. Hogrel, T. Lavergne, K. Wahbi, and sarcoidosis in a patient with dysferlin deficiency
B. Hainque, D. Duboc A. Selva-O’Callaghan, M. Labrador-Horrillo, E. Gallardo,
A. Herruzo, J.M. Grau-Junyent, M. Vilardell-Tarres
Gene dosage sensitivity of a novel mutation in the
intracellular domain of PO associated with Charcot- Workshop report
Marie-Tooth disease type 1B Muscular Dystrophy Campaign Funded Workshop on
G.M. Fabrizi, M. Pellegrini, C. Angiari, T. Cavallaro, A. Morini, Management of Scoliosis in Duchenne Muscular
F. Taioli, |. Cabrini, D. Orrico, N. Rizzuto Dystrophy 24 January 2005, London, UK
F. Muntoni, K. Bushby, A.Y. Manzur
Congenital myopathy with abundant nemaline rods
in a cat Instructions to Authors
S.A. Kube, K.M. Vernau, R.A. LeCouteur, A.P. Mizisin,
G.D. Shelton
April 2006
Volume 16 Number 4
Review Research papers
Therapeutic targets in patients with inflammatory First evaluation of the potential effectiveness in
myopathies: Present approaches and a look to the future muscular dystrophy of a novel chimeric compound, BN
M.C. Dalakas 82270, acting as calpain-inhibitor and anti-oxidant
R. Burdi, M.P. Didonna, B. Pignol, B. Nico, D. Mangieri,
J.-F. Rolland, C. Camerino, A. Zallone, P. Ferro, F. Andreetta,
P. Confalonieri, A. De Luca
896 Volume contents
Long-term benefits of deflazacort treatment for boys with ‘Cap myopathy’: Case report of a family
Duchenne muscular dystrophy in their second decade J.M. Cuisset, C.A. Maurage, J.F. Pellissier, A. Barois,
W.D. Biggar, V.A. Harris, L. Eliasoph, B. Alman J.A. Urtizberea, N. Laing, H. Tajsharghi, L. Vallée
Rapid and accurate diagnosis of facioscapulohumeral Juvenile onset acid maltase deficiency presenting as a
muscular dystrophy rigid spine syndrome
K. Goto, I. Nishino, Y.K. Hayashi A. Kostera-Pruszczyk, A. Opuchlik, A. ugowska, A. Nadaj,
J. Bojakowski, A. Tylki-Szymanska, A. Kaminska
Measurement of participation in myotonic dystrophy:
Reliability of the LIFE-H The French-Japanese workshops on Muscular
C. Gagnon, J. Mathieu, L. Noreau Dystrophies
Ramblings of a peripatetic paediatrician, book launch
So doctor, what exactly is wrong with my muscles?
Glutaric aciduria type Il presenting in a teenager Book reviews
M.W. Beresford, M. Pourfarzam, D.M. Turnbull,
J.E. Davidson Instructions to Authors
A case of Fukuyama-type congenital muscular dystrophy
with a very mild mental deficit
N. Hino-Fukuyo, K. Haginoya, Y.K. Hayashi, |. Nishino,
T. Murakami, |. Nonaka, K. Togashi, S. Tanaka,
M. Takayanagi, H. Yokoyama, O. Sakamoto, T. Abe,
T. Toda, K. linuma
May 2006
Volume 16 Number 5
Review Predictors of severe chest infections in pediatric
Chronic inflammatory demyelinating polyneuropathy neuromuscular disorders
G. Said C. Dohna-Schwake, R. Ragette, H. Teschler, T. Voit,
U. Mellies
Research papers
Polyneuropathies in teenagers: A clinicopathological Long-term improvement of slow-channel congenital
study of 45 cases myasthenic syndrome with fluoxetine
E. Kararizou, N. Karandreas, P. Davaki, R. Davou, J. Colomer, J.S. Muller, A. Vernet, A. Nascimento, M. Pons,
D. Vassilopoulos V. Gonzalez, A. Abicht, H. Lochmiller
Novel myelin protein zero mutation (Arg36Trp) in a Marked efficacy of a therapeutic strategy associating
patient with acute onset painful neuropathy prednisone and plasma exchange followed by rituximab
T.M. Burns, L.H. Phillips, E.L. Dimberg, B.K. Vaught, in two patients with refractory myopathy associated with
C.J. Klein antibodies to the signal recognition particle (SRP)
J.-B. Arlet, D. Dimitri, C. Pagnoux, O. Boyer, T. Maisonobe,
Sporadic inclusion body myositis in Japanese is F.-J. Authier, C. Bloch-Queyrat, C. Goulvestre, F. Heshmati,
associated with the MHC ancestral haplotype 52.1 M. Atassi, L. Guillevin, S. Herson, O. Benveniste, L. Mouthon
A.P. Scott, R.J.N. Allcock, F. Mastaglia, |. Nishino, |. Nonaka,
N. Laing Differential calcineurin signalling activity and
regeneration efficacy in diaphragm and limb muscles of
Genetic heterogeneity within a consanguineous family dystrophic mdx mice
involving the LGMD 2D and the LGMD 2C genes N. Stupka, B.J. Michell, B.E. Kemp, G.S. Lynch
K. Fendri, M. Kefi, F. Hentati, R. Amouri
Al(OH)3-adjuvanted vaccine-induced macrophagic
A new case of autosomal dominant myotonia associated myofasciitis in rats is influenced by the genetic
with the V1589M missense mutation in the muscle background
sodium channel gene and its phenotypic classification F.-J. Authier, S. Sauvat, C. Christov, P. Chariot, G. Raisbeck,
D. Ferriby, T. Stojkovic, D. Sternberg, J.-F. Hurtevent, M.-F. Poron, F. Yiou, R. Gherardi 347
J.-P. Hurtevent, P. Vermersch
Book reviews 353
Instructions to Authors 354
Volume 16 Number 6 June 2006
Research papers Different early pathogenesis in myotilinopathy compared
Novel slow-skeletal myosin (MYH7) mutation in the to primary desminopathy
original myosin storage myopathy kindred D. Fischer, C.S. Clemen, M. Olive, |. Ferrer, B. Goudeau,
D.E. Dye, B. Azzarelli, H.H. Goebel, N.G. Laing U. Roth, P. Badorf, M.P. Wattjes, G. Lutterbey, T. Kral,
P.F.M. van der Ven, D.O. First, P. Vicart, L.G. Goldfarb,
M. Moza, O. Carpen, J. Reichelt, R. Schréder
Volume contents
Lamin A/C assembly defects in Emery—Dreifuss An unusual pathologic feature associated with
muscular dystrophy can be regulated by culture medium dermatomyositis
composition J.B. Sampson, S.S. Chin, F.C. Clayton, A. Pestronk,
|. Holt, N.t. Man, M. Wehnert, G.E. Morris K.J. Swoboda, K.M. Flanigan
The gross motor function measure™ is a valid and Demyelinating polyneuropathy in Leber hereditary optic
sensitive outcome measure for spinal muscular atrophy neuropathy
L. Nelson, H. Owens, L.S. Hynan, S.T. lannaccone, H.J. Gilhuis, H.J. Schelhaas, J.R.M. Cruysberg, M.J. Zwarts
AmSMART Group
Workshop reports
Is selection required for the accumulation of somatic 136th ENMC International Workshop: Charcot—Marie—
mitochondrial DNA mutations in post-mitotic cells? Tooth Disease Type 1A (CMT1A)8-10 April 2005,
S.E. Durham, D.C. Samuels, P.F. Chinnery Naarden, The Netherlands
M.M. Reilly, P. de Jonghe, D. Pareyson
Novel spastin (SPG4) mutations in Italian patients with
hereditary spastic paraplegia 140th ENMC International Workshop: Myotonic
A. Magariello, M. Muglia, A. Patitucci, R. Mazzei, Dystrophy DM2/PROMM and other myotonic dystrophies
F.L. Conforti, A.L. Gabriele, T. Sprovieri, C. Ungaro, with guidelines on management
A. Gambardella, M. Mancuso, G. Siciliano, D. Branca, B. Udd, G. Meola, R. Krahe, C. Thornton, L.P.W. Ranum,
U. Aguglia, M.V. de Angelis, K. Longo, A. Quattrone G. Bassez, W. Kress, B. Schoser, R. Moxley
Instructions to Authors
Volume 16 Number 7 July 2006
Research papers Clinical spectrum of CMT4C disease in patients
A modified Hammersmith functional motor scale for use homozygous for the p.Arg1109X mutation in SH3TC2
in multi-center research on spinal muscular atrophy J. Colomer, R. Gooding, D. Angelicheva, R.H.M. King,
K.J. Krosschell, J.A. Maczulski, T.O. Crawford, C. Scott, E. Guillen-Navarro, Y. Parman, A. Nascimento, J. Conill,
K.J. Swoboda L. Kalaydjieva
Myotilinopathy in a family with late onset myopathy Decrement pattern in Lambert—Eaton myasthenic
|. Péenisson-Besnier, K. Talvinen, C. Dumez, A. Vihola, syndrome is different from myasthenia gravis
F. Dubas, M. Fardeau, P. Hackman, O. Carpen, B. Udd M.B. Baslo, F. Deymeer, P. Serdaroglu, Y. Parman,
C. Ozdemir, M. Cuttini
Novel splice site mutation in the caveolin-3 gene leading
to autosomal recessive limb girdle muscular dystrophy A systematic review of diagnostic studies in myasthenia
J.S. Miller, H. Piko, B.G.H. Schoser, B. Schlotter-Weigel, gravis
P. Reilich, S. Gurster, C. Born, V. Karcagi, D. Pongratz, M. Benatar
H. Lochmiller, M.C. Walter
Dermatomyositis, lobar panniculitis and inflammatory
Constitutive upregulations of titin-based signalling myopathy with abundant macrophages
proteins in KY deficient muscles E. Carrera, J.-A. Lobrinus, O. Spertini, R.K. Gherardi,
J. Beatham, K. Gehmlich, P.F.M. van der Ven, J. Sarparanta, T. Kuntzer
D. Williams, P. Underhill, C. Geier, D.O. Furst, B. Udd,
G. Blanco Book reviews
POMT2 mutation in a patient with ‘MEB-like’ phenotype Instructions to Authors
E. Mercuri, A. D’Amico, A. Tessa, A. Berardinelli, M. Pane,
S. Messina, J. van Reeuwijk, E. Bertini, F. Muntoni,
F.M. Santorelli
July 2006
Volume 16 Number S1
Title Page: PROGRAMME and ABSTRACTS for the Xith Scientific Programme (full) $11
International Congress on Neuromuscular Diseases 2-7
Index for Oral and Poster Presentations S46
July 2006, Istanbul, Turkey
Abstracts $48
Welcome to Istanbul
Author Index $197
Programme Summary
898 Volume contents
Volume 16 Number 8 August 2006
Research papers SANDO: Two novel mutations in POLG1 gene
Muscle slowness in a family with nemaline myopathy M.F. Gago, M.J. Rosas, J. Guimaraes, M. Ferreira,
|.M.P. Pauw-Gommans, K.H.L. Gerrits, A. de Haan, L. Vilarinho, L. Castro, S. Carpenter
B.G.M. van Engelen
A case of neuromuscular mimicry
Fetal arthrogryposis and maternal serum antibodies M.M. Bos, S. Overeem, B.G.M. van Engelen, H. Scheffer,
P. Dalton, L. Clover, R. Wallerstein, H. Stewart, C. van den Elzen, H. ter Laak, M. Lammens, H.J. Schelhaas,
O. Genzel-Boroviczeny, A. Dean, A. Vincent M.J. Zwarts
Atypical presentations of spinal muscular atrophy type Ill Amyloid myopathy presenting with rhabdomyolysis:
(Kugelberg—Welander disease) Evidence of complement activation
P.B. Kang, K.S. Krishnamoorthy, R.M. Jones, F.D. Shapiro, C. Rodolico, A. Mazzeo, A. Toscano, C. Pastura,
B.T. Darras D. Maimone, O. Musumeci, C. Musolino, G. Vita
Raised troponin T in inclusion body myositis is common Exercise improves the success of myoblast
and serum levels are persistent over time transplantation in mdx mice
C. Lindberg, L. Klintberg, A. Oldfors M. Bouchentouf, B.F. Benabdallah, P. Mills, J.P. Tremblay
Distinct phenotypic features and gender-specific disease Workshop reports
manifestations in a Spanish family with desmin L370P 135th ENMC International Workshop: Nutrition in
mutation Amyotrophic Lateral Sclerosis 18-20 of March 2005,
M. Arias, J. Pardo, P. Blanco-Arias, M.-J. Sobrido, S. Arias, Naarden, The Netherlands
D. Dapena, A. Carracedo, L.G. Goldfarb, C. Navarro A.C. Ludolph
Mitochondrial myopathy with exercise intolerance and Instructions to Authors
retinal dystrophy in a sporadic patient with a G583A
mutation in the mt tRNAP"* gene
N. Darin, G. Kollberg, A-R. Moslemi, M. Tulinius,
E. Holme, M.A. Grénilund, S. Andersson, A. Oldfors
Volume 16 Numbers 9-10 September—October 2006
Research papers
Severe nemaline myopathy caused by mutations of the A comparative analysis of collagen VI production in
stop codon of the skeletal muscle alpha actin gene muscle, skin and fibroblasts from 14 Ulirich congenital
(ACTA) muscular dystrophy patients with dominant and
W. Wallefeld, S. Krause, K.J. Nowak, D. Dye, R. Horvath, recessive COL6A mutations
Z. Molnar, M. Szabo, K. Hashimoto, C. Reina, J.D. Carlos, C. Jimenez-Mallebrera, M.A. Maioli, J. Kim, S.C. Brown,
J. Rosell, A. Cabello, C. Navarro, |. Nishino, H. Lochmiller, L. Feng, A.K. Lampe, K. Bushby, D. Hicks, K.M. Flanigan,
N.G. Laing C. Bonnemann, C.A. Sewry, F. Muntoni
Fatal hypertrophic cardiomyopathy and nemaline Induced dystrophin exon skipping in human muscle
myopathy associated with ACTA1 K336E mutation explants
A. D’Amico, C. Graziano, G. Pacileo, S. Petrini, K.J. Nowak, G. McClorey, A.M. Fall, H.M. Moulton, P.L. Iversen,
R. Boldrini, A. Jacques, J.-J. Feng, B. Porfirio, C.A. Sewry, J.E. Rasko, M. Ryan, S. Fletcher, S.D. Wilton
F.M. Santorelli, G. Limongelli, E. Bertini, N. Laing,
S.B. Marston Reduced necrosis of dystrophic muscle by depletion of
host neutrophils, or blocking TNFa function with
Severe phenotype in infantile facioscapulohumeral Etanercept in mdx mice
muscular dystrophy S. Hodgetts, H. Radley, M. Davies, M.D. Grounds
L. Klinge, M. Eagle, |.D. Haggerty, C.E. Roberts, V. Straub,
K.M. Bushby Development of polyglucosan inclusions in skeletal
muscle
Severe fascioscapulohumeral muscular dystrophy B.A. Valentine, B.J. Cooper
presenting with Coats’ disease and mental retardation
L.A. Bindoff, N. Mjellem, K. Sommerfelt, B.K. Krossnes, Workshop report
F. Roberts, J. Krohn, R.S. Tranheim, |.D. Haggerty Workshop on the nuclear envelope and Emery-Dreifuss
muscular dystrophy 29th March 2006, Oswestry, UK
Sleep disorders in childhood-onset myotonic dystrophy K. Natalie Randles, G.E. Morris
type 1
M.-A. Quera Salva, M. Blumen, A. Jacquette, M.-C. Durand,
S. Andre, M. De Villiers, B.E ymard, F. Lofaso, D. Heron
Volume contents
Letters to the Editor 11th International Congress of the World Muscle Society
“So doctor, what exactly is wrong with my muscles? WMS11, Title page 619
Glutaric aciduria type Il presenting in a teenager”
M.W. Beresford, M. Pourfarzam, J.E. Davidson Welcome to Bruges
Chest infections in young neuromuscular patients: The 11th WMS Congress — 2006 - Programme (Summary)
critical importance of preserving Vital Capacity
A. Vianello, B. Trani, C. Greggio, A. Dona 614 Programme of the 11th WMS Congress — 2006 626
Reply to Vianello et al. Table of Location of Abstract topics 643
C. Dohna-Schwake, T. Voit, U. Mellies 615
Abstracts 644
Rapid and accurate diagnosis of facioscapulohumeral
muscular dystrophy Author Index 727
R.J.L.F. Lemmers, M.J.R. van der Wielen, E. Bakker,
R.R. Frants, S.M. van der Maarel 615 Instructions to Authors 734
Reply to Lemmers et al.
K. Goto, |. Nishino, Y.K. Hayashi
Volume 16 Number 11 November 2006
Research papers No effect of folic acid and methionine supplementation
Myopathy in horses with pituitary pars intermedia on D4Z4 methylation in patients with
dysfunction (Cushing’s disease) facioscapulohumeral muscular dystrophy
M. Aleman, J.L. Watson, D.C. Williams, R.A. LeCouteur, E.L. van der Kooi, J.C. de Greef, M. Wohlgemuth,
J.E. Nieto, G.D. Shelton 737 R.R. Frants, R.J.G.P. van Asseldonk, H.J. Blom,
B.G.M. van Engelen, S.M. van der Maarel, G.W. Padberg 766
Outpatient continuous inotrope infusion as an adjunct to
heart failure therapy in Duchenne muscular dystrophy Premature proliferative arrest of cricopharyngeal
L.H. Cripe, B.J. Barber, R.L. Spicer, B.L. Wong, N. Weidner, myoblasts in oculo-pharyngeal muscular dystrophy:
D.W. Benson, L.W. Markham 745 Therapeutic perspectives of autologous myoblast
transplantation
Extreme phenotypic variability in a German family with S. Périé, K. Mamchaoui, V. Mouly, S. Blot, B. Bouazza,
X-linked myotubular myopathy associated with E404K L.-E. Thornell, J.L. St Guily, G. Butler-Browne 770
mutation in MTM1
S. Hoffjan, C. Thiels, M. Vorgerd, E. Neuen-Jacob, Muscle cell and motor protein function in patients with a
J.T. Epplen, W. Kress 749 lla myosin missense mutation (Glu-706 to Lys)
M. Li, A. Lionikas, F. Yu, H. Tajsharghi, A. Oldfors,L. Larsson 782
Familial inclusion body myositis in a mother and son
with different ancestral MHC haplotypes Muscle protein analysis in the detection of heterozygotes
F. Mastaglia, P. Price, S. Walters, V. Fabian, J. Miller, P. Zilko 754 for recessive limb girdle muscular dystrophy type 2B and
2E
Myofibrillar myopathy with congenital cataract and M. Fanin, A.C. Nascimbeni, C. Angelini 792
skeletal anomalies without mutations in the desmin,
aB-crystallin, myotilin, LMNA or SEPN1 genes SOD1 gene mutations in Italian patients with Sporadic
A. Kostera-Pruszczyk, B. Goudeau, A. Ferreiro, P. Richard, Amyotrophic Lateral Sclerosis (ALS)
S. Simon, P. Vicart, A. Fidzianska 759 L. Corrado, S. D’Alfonso, L. Bergamaschi, L. Testa,
M. Leone, N. Nasuelli, P. Momigliano-Richiardi, L. Mazzini 800
Isaacs’ syndrome associated with myasthenia gravis,
showing remission after cytoreductive surgery of pleural Refsum’s disease may mimic familial Guillain Barre
recurrence of thymoma syndrome
K. Fukushima, T. Sato, S. Mitsuhashi, K. Kaneko, M. Yazaki, C. Verny, A. Prundean, G. Nicolas, V. Pautot, D. Maugin,
M. Matsuda, T. Hashimoto, K. Hamanaka, K. Yoshida, T. Levade, D. Bonneau, F. Dubas 805
S.-i. Ikeda 763
Book reviews 809
Instructions to Authors 811
Volume 16 Number 12 December 2006
Editorial Research papers
Clinical Casebook A scale to monitor progression and treatment of
V. Dubowitz 813 mitochondrial disease in children
C. Phoenix, A.M. Schaefer, J.L. Elson, E. Morava, M. Bugiani,
G. Uziel, J.A. Smeitink, D.M. Turnbull, R. McFarland 814
900 Volume contents
Deficiency of mitochondrial ATP synthase of nuclear Mutation analysis in the FKRP gene provides an
genetic origin explanation for a rare cause of intrafamilial clinical
W. Sperl, P. JeSina, J. Zeman, J.A. Mayr, L. DeMeirleir, variability in LGMD2l
R. VanCoster, A. Pickova, H. Hansikova, H. Houst’kova, N.M. Vieira, D. Schlesinger, F. de Paula, M. Vainzof,
Z. Krejcik, J. Koch, J. Smet, W. Muss, E. Holme, M. Zatz
J. Houstek
A novel sporadic mutation G14739A of the mitochondrial
Multiplex ligation-dependent probe amplification tRNA" in a girl with exercise intolerance
improves diagnostics in spinal muscular atrophy J.A. Mayr, A.-R. Moslemi, H. Forster, A. Kamper,
E.L. Arkblad, N. Darin, K. Berg, E. Kimber, C. Idriceanu, W. Muss, M. Huemer, A. Oldfors, W. Sper
G. Brandberg, C. Lindberg, E. Holmberg, M. Tulinius,
M. Nordling A novel 9-bp insertion in the GJB1 gene causing a mild
form of X-linked CMT with late onset
ABPP-overexpression and proteasome inhibition G. Vazza, L. Merlini, C. Bertolin, M. Zortea, M.L. Mostacciuolo
increase «B-crystallin in cultured human muscle:
Relevance to inclusion-body myositis Myosin storage (hyaline body) myopathy: A case report
S. Wojcik, W.K. Engel, J. McFerrin, O. Paciello, V. Askanas M.V. Shingde, P.J. Spring, A. Maxwell, E.J. Wills,
C.G. Harper, D.E. Dye, N.G. Laing, K.N. North
Streptomycin reduces stretch-induced membrane
permeability in muscles from mdx mice Muscle news
N.P. Whitehead, M. Streamer, L.I. Lusambili, F. Sachs,
D.G. Allen Obituary
Professor Setsuro Ebashi
Poloxamer 188 failed to prevent exercise-induced E. Ozawa
membrane breakdown in mdx skeletal muscle fibers
J.G. Quinlan, B.L. Wong, R.T. Niemeier, A.S. McCullough, Volume Contents
L. Levin, M. Emanuele
Author Index
Clinical casebook
Enigmatic conflict of clinical and molecular diagnosis in Keyword Index
Duchenne/Becker muscular dystrophy
V. Dubowitz Instructions to Authors
Case reports
Atypical presentation of macrophagic myofasciitis 10
years post vaccination
A.M. Ryan, N. Bermingham, H.J. Harrington, C. Keohane