RESUMEN

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.

Asunto(s)

Trastornos del Conocimiento/etiología , Manosiltransferasas/genética , Trastornos Mentales/etiología , Distrofia Muscular de Cinturas/complicaciones , Distrofia Muscular de Cinturas/genética , Mutación/genética , Adulto , Encéfalo/patología , Trastornos del Conocimiento/genética , Consanguinidad , Análisis Mutacional de ADN , Femenino , Humanos , Imagen por Resonancia Magnética , Trastornos Mentales/genética , Hermanos