Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

LMNA-related disorders are caused by mutations in the LMNA gene, which encodes for the nuclear envelope proteins, lamin A and C, via alternative splicing. Laminopathies are associated with a wide range of disease phenotypes, including neuromuscular, cardiac, metabolic disorders and premature aging s...

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Bibliographic Details
Main Authors: Maggi, Lorenzo, Carboni, Nicola, Bernasconi, Pia
Format: Online
Language:English
Published: MDPI 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5040975/