XL Congresso Società Italiana di Neurologia PADOVA 21-25 ...

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571. FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: OCCURRENCE
OF ATYPICAL ONSET IN A SERIES OF 123 CASES
E. PASTORELLO, C. BORSATO, M. CAO, G. CAMPORESE, M. FANIN, G. TOMELLERI,
G. GALLUZZI, R. TUPLER, C. ANGELINI, C. TREVISAN (Padova, Verona, Roma,
Modena)
572. SEVERE CHILDHOOD MYOPATHY WITH RIGID SPINE, RESPIRATORY
INSUFFICIENCY AND PERIPHERAL NEUROPATHY DUE TO BAG3 MUTATION
A. PILOTTO, D. SELCEN, F. MUNTONI, A. ENGEL, C. ANGELINI, E. PEGORARO
(Padova, Dubowitz - NY, London - UK)
573. THE FIRST ITALIAN FAMILY WITH DISTAL MYOPATHY ASSOCIATED
WITH A NOVEL TTN GENE MUTATION
M. A. CARLUCCIO, A. MALANDRINI, M. POLLAZON, M. MONDELLI, A. RENIERI,
A. FEDERICO, B. UDD, M. DOTTI (Siena, Tampere - FIN)
574. PHENOTYPIC VARIABILITY IN MYOTONIC DYSTROPHY TYPE 2 (DM2)
A. ZANOLINI, V. SANSONE, M. PANZERI, B. FOSSATI, G. MEOLA (San Donato
Milanese - MI)
575. DYSFERLINOPATHIES: NATURAL HISTORY AND ROLE OF PHYSICAL
ACTIVITY AS AN ADVERSE FACTOR
L. BORTOLUSSI, C. BORSATO, A. PALMIERI, M. FANIN, C. ANGELINI (Padova)
576. IDEBENONE THERAPY IN PATIENTS CARRYING THE MELAS MUTATION:A
FOLLOW-UP STUDY
C. LA MORGIA, R. LIGUORI, C. TONON, E. MALUCELLI, G. RIZZO, L. IOMMARINI,
R. CARROCCIA, M. AMADORI, M. BELLAN, G. CANTALUPO, R. LODI, R. RINALDI,
P. AVONI, M. VALENTINO, P. MONTAGNA, V. CARELLI (Bologna, Parma)
577. PROMINENT GASTROINTESTINAL DYSMOTILITY IN MITOCHONDRIAL
ENCEPHALOMYOPATHIES
C. LA MORGIA, R. DE GIORGIO, V. STANGHELLINI, G. CENACCHI, R. RINALDI,
L. BADIAL DE GIORGI, L. PIRONI, R. COGLIANDRO, L. IOMMARINI, P. MONTAGNA,
M.L. VALENTINO, R. LIGUORI, V. CARELLI (Bologna)
578. LATE-ONSET GLYCOGENOSIS TYPE 2 : DOES ERT MODIFY NATURAL
HISTORY OF THE DISEASE?
C. SEMPLICINI, P. TONIN, M. FILOSTO, E. PEGORARO, C. ANGELINI (Padova, Verona, Brescia)
579. INCREASED AUTOPHAGY-APOPTOSIS IN DIFFERENTIATED MYOTONIC
DYSTROPHY TYPE 1 MUSCLE CELLS
E. LORO, G. QUERIN, F. RINALDI, E. MASIERO, V. ROMEO, G. SORARÙ, C. ANGELINI,
M. SANDRI, A. BOTTA, L. VERGANI (Padova, Roma)
580. A NEW FUNCTIONAL SCALE FOR MYOTONIC DYSTROPHY TYPE 1
S. CONTARDI, F. PIZZA, F. FALZONE, R. D’ALESSANDRO, P. AVONI, V. DI STASI,
P. MONTAGNA, R. LIGUORI (Bologna)
581. COGNITIVE AND NEURORADIOLOGICAL PROFILE IN LGMD-2I
A. PALMIERI, R. MANARA, L. BELLO, G. MENTO, L. LAZZARINI, C. BORSATO,
M. ERMANI, E. PEGORARO, C. ANGELINI (Padova)
582. DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECTS IN A
PATIENT WITH PARTIAL REDUCTION OF MEROSIN DUE TO LAMA2
GENE ALTERATIONS
R. PIRAS, N. CARBONI, G. MARROSU, M. MAIOLI, G. COGHE, G. FENU, J. FRAU,
L. LOREFICE, A. MATTEDDU, E. SOLLA, E. COCCO, M. MARROSU (Cagliari)
583. WALKING AND BALANCE IN FACIOSCAPULOHUMERAL MUSCULAR
DYSTROPHY (FSHD): CLINICAL AND INSTRUMENTAL ASSESSMENT
I. APRILE, A. GILARDI, C. BORDIERI, G. VERGILI, M. IOSA, L. PADUA, E. RICCI
(Roma)
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