1.
Neuromuscul Disord
; 24(11): 990-2, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25088310
RESUMO
We report two siblings of Croatian consanguineous healthy parents with a novel homozygous missense mutation in the POMT1 gene, presenting with intellectual disability and psychotic, in particular hallucinatory symptoms and abnormal brain MRIs, preceding classical symptoms of limb-girdle muscular dystrophy by several years. Weakness became apparent in early adulthood and both siblings remained ambulant into the 3rd and 4th decade of life. The muscle biopsy showed reduced α-dystroglycan compatible with the POMT1 defect. This case report extends the phenotypic spectrum of POMT1 associated muscular dystrophies to the adult onset limb girdle muscular dystrophies with psycho-organic deficits.
Assuntos
Transtornos Cognitivos/etiologia , Manosiltransferases/genética , Transtornos Mentais/etiologia , Distrofia Muscular do Cíngulo dos Membros/complicações , Distrofia Muscular do Cíngulo dos Membros/genética , Mutação/genética , Adulto , Encéfalo/patologia , Transtornos Cognitivos/genética , Consanguinidade , Análise Mutacional de DNA , Feminino , Humanos , Imageamento por Ressonância Magnética , Transtornos Mentais/genética , Irmãos
2.
Acta Neurol Belg
; 114(2): 165-6, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24338761