Rosanna Trovato

TL;DR: Clinical and genetic forms of congenital myopathy are reviewed and possible strategies to improve cost-effectiveness in histological and imaging diagnosis are defined.

TL;DR: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.

TL;DR: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia associated with cerebellar cognitive‐affective syndrome (CCAS), named SCA48.

TL;DR: It is suggested that analysis of the EXOSC3 gene should be recommended also in patients with spinal anterior horn involvement and isolated cerebellar hypoplasia, and the pontine volume was in the normal range for age.

TL;DR: The overlap of several clinical signs between SCAR16 and SCA48 indicates the presence of a continuous clinical spectrum among recessively and dominantly inherited mutations of STUB1, which encode the E3 ubiquitin ligase CHIP.