Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

(2011) Gladys Montenegro et al.   ANNALS OF NEUROLOGY

Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging Technologies

(2010) Carolina Tesi Rocha et al.   Current Neurology and Neuroscience Reports

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

(2010) J.-M. Burgunder et al.   EUROPEAN JOURNAL OF NEUROLOGY

A new c.1621 C>G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype–phenotype correlation

(2010) Łukasz A Małek et al.   JOURNAL OF HUMAN GENETICS

Hereditary muscular dystrophies and the heart

(2010) M.C.E. Hermans et al.   NEUROMUSCULAR DISORDERS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

(2009) Fiona L. M. Norwood et al.   BRAIN

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Association of homozygousLMNAmutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

(2008) Birgit Zirn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

(2008) Andreas Perrot et al.   BASIC RESEARCH IN CARDIOLOGY

Keeping Up With the Next Generation

(2008) John R. ten Bosch et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy

(2008) Hyun Y. Kim et al.   MUSCLE & NERVE

The impact of next-generation sequencing technology on genetics

(2008) Elaine R. Mardis   TRENDS IN GENETICS

Cardiac Arrest and Left Ventricular Fibrosis in a Finnish Family with the Lamin A/C Mutation

(2007) EEVA HOOKANA et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY