Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

ABSTRACT:

Background

Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic expression with more than 15 syndromes described, belonging to five phenotypic groups: Muscular Dystrophies, Neuropathies, Cardiomyopathies, Lipodystrophies and Progeroid Syndromes. Overlapping phenotypes are also reported. Linking gene and variants with phenotypic expression, disease mechanisms, and corresponding treatments is particularly challenging in laminopathies. Treatment recommendations are limited, and very few are variant-based.

Objective

The Treatabolome initiative aims to provide a shareable dataset of existing variant-specific treatment for rare d

SUBMITTER: Atalaia A 

PROVIDER: S-EPMC8203247 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature