Expanding the clinical spectrum of POMT1 phenotype.

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

Neurology

journal_title

Neurology

authors

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 E

doi

10.1212/01.wnl.0000216145.66476.36

subject

Has Abstract

pub_date

2006-05-23 00:00:00

pages

1564-7; discussion 1461

issue

10

eissn

0028-3878

issn

1526-632X

pii

66/10/1564

journal_volume

66

pub_type

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