POMT2 mutation in a patient with 'MEB-like' phenotype.
Neuromuscul Disord
; 16(7): 446-8, 2006 Jul.
Article
em En
| MEDLINE
| ID: mdl-16701995
ABSTRACT
Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity.
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Base de dados:
MEDLINE
Assunto principal:
Mutação Puntual
/
Manosiltransferases
/
Deficiência Intelectual
/
Microcefalia
/
Distrofias Musculares
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Neuromuscul Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Itália