Is the Next Generation Sequencing the Essential Tool for the Early Diagnostic Approach in Congenital Muscular Dystrophy? New Mutation in the Gen LMNA Associated with Serious Phenotype.

Background: Laminopathies are a group of diseases caused by mutations in the LMNA gene. Congenital dystrophy of the LMN is a rare disease, with less than 100 cases described in the literature.

Objectives And Materials And Methods: We present the clinical case of a patient with congenital muscular dystrophy associated with an undescribed mutation in the LMNA gene.

Neuropsychological syndromes in multiple sclerosis.

Background: Cognitive impairment in multiple sclerosis (MS) is common (45-65%).Deficits occur in speed of information processing (SIP), memory, attention, executive functions (EF) and visuoconstruction.Involvement of cognitive functions like language and gnosis is rare and lesser known.