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.

Abstract excerpt

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. RESULTS: The patient presented progressive motor...

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