TY - JOUR
T1 - Expanding the clinical spectrum of POMT1 phenotype
AU - D'Amico, A.
AU - Tessa, A.
AU - Bruno, C.
AU - Petrini, S.
AU - Biancheri, R.
AU - Pane, Marika
AU - Pedemonte, M.
AU - Ricci, Enzo
AU - Falace, A.
AU - Rossi, A.
AU - Mercuri, Eugenio Maria
AU - Santorelli, F. M.
AU - Bertini, E.
PY - 2006
Y1 - 2006
N2 - Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1-associated phenotypes. Copyright © 2006 by AAN Enterprises, Inc.
AB - Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1-associated phenotypes. Copyright © 2006 by AAN Enterprises, Inc.
KW - POMT1
KW - POMT1
UR - https://publicatt.unicatt.it/handle/10807/260319
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=33745379190&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=33745379190&origin=inward
U2 - 10.1212/01.wnl.0000216145.66476.36
DO - 10.1212/01.wnl.0000216145.66476.36
M3 - Article
SN - 0028-3878
VL - 66
SP - 1564
EP - 1567
JO - Neurology
JF - Neurology
IS - 10
ER -