Publications by authors named "Ester Picillo"
Article Synopsis
- Mutations in the GAA gene can lead to late-onset Pompe disease, which may show symptoms of muscle weakness without typical muscle damage, making GAA activity testing crucial for patients with unexplained muscle issues.
- Using a targeted gene panel called MotorPlex, researchers analyzed GAA and other genes in 504 patients suspected of having inherited muscle disorders, finding GAA mutations in 10 individuals.
- The study highlights the need for testing both genetic and enzymatic factors in patients with muscle weakness to accurately diagnose conditions like Pompe disease, which can easily be confused with other muscle disorders.
The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We present the clinical, molecular and neuroimaging features of an Italian boy who had delayed developmental milestones with mild limb-girdle muscle involvement, bilateral frontotemporal polymicrogyria, moderate intellectual disability, and no cerebellar involvement.
View Article and Find Full Text PDFObjective: Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4) also modify DCM onset.
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