FIORILLO , Chiara

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by selective weakness of face and upper arms and girdle. Respiratory involvement in FSHD has been described mainly in the most severely affected patients. In this work we tested the respiratory function by spirometry in 12 patients affected...

We have performed whole-exome sequencing in a family trio with a 16-year-old girl suffering of progressive motor neuron disease. There was no family history of the disease and no parental consanguinity. Our exome analysis indicated the proband as a compound heterozygote for two missense variants in the TECPR2 gene according to a recessive mode...

BACKGROUND:Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, developmuscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinicalfeatures of DMD carriers during childhood are poorly known.PATIENTS:We describe a cohort of pediatric DMDcarriers, providing...