A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.
Eur J Paediatr Neurol
; 18(3): 404-8, 2014 May.
Article
en En
| MEDLINE
| ID: mdl-24183756
ABSTRACT
BACKGROUND:
POMT2 mutations have been identified in Walker-Warburg syndrome or muscle-eye-brain-like, but rarely in limb girdle muscular dystrophy (LGMD).RESULTS:
Two POMT2 mutations, one null and one missense, were found in a patient with LGMD and mild mental impairment, no brain or ocular involvement, minor histopathological features, and slight reduction of α-dystroglycan (α-DG) glycosylation and α-DG laminin binding.CONCLUSIONS:
Our case, the fourth LGMD POMT2-mutated reported to date, provides further evidence of correlation between level of α-DG glycosylation and phenotype severity.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Músculo Esquelético
/
Distrofia Muscular de Cinturas
/
Distroglicanos
/
Manosiltransferasas
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Paediatr Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM