Abstract:
: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.
journal_name
Neurologyjournal_title
Neurologyauthors
D'Amico A,Tessa A,Bruno C,Petrini S,Biancheri R,Pane M,Pedemonte M,Ricci E,Falace A,Rossi A,Mercuri E,Santorelli FM,Bertini Edoi
10.1212/01.wnl.0000216145.66476.36subject
Has Abstractpub_date
2006-05-23 00:00:00pages
1564-7; discussion 1461issue
10eissn
0028-3878issn
1526-632Xpii
66/10/1564journal_volume
66pub_type
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