Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

ABSTRACT:

Background

A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression and phenotypic variability of the disease in large specific populations. The aim of our study was to assess the natural history, disability and genotype-phenotype correlations in Italian patients with NLSDs. Twenty-one patients who satisfied the criteria for NLSDs were enrolled in a retrospective cross-sectional study to evaluate the genetic aspects, clinical signs at onset, disability progression and comorbidities associated with this group of diseases.

Results

During the clinical follow-up (range: 2-44 years, median

SUBMITTER: Pennisi EM 

PROVIDER: S-EPMC5427600 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature