Mutations of Lamin A/C gene (LMNA) cause laminopathies, a group of disorders associated
with a wide spectrum of clinically distinct phenotypes, affecting different tissues and organs …

The practice of genomic medicine stands to revolutionize our approach to medical care, and
to realize this goal will require discovery of the relationship between rare variation at each of …

Purpose We investigated the value of transcriptome sequencing (RNAseq) in ascertaining
the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from …

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with
histological features suggesting a dystrophic process. The congenital muscular dystrophies …

Objectives: The aim of this study was to analyze the long-term follow-up of dilated
cardiolaminopathies. Background: Lamin A/C (LMNA) gene mutations cause a variety of …

Objective To describe a new entity of congenital muscular dystrophies caused by de novo
LMNA mutations. Methods Fifteen patients presenting with a myopathy of onset in the first …

Objective: Inherited myopathies comprise more than 200 different individually rare disease-
subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals …

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 …

Genetic variants that cause haploinsufficiency account for many autosomal dominant (AD)
disorders. Gene-based diagnosis classifies variants that alter canonical splice signals as …

Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different
disorders called laminopathies which affect various tissues in an isolated (striated muscle …