Disease: Charcot-Marie-Tooth disease- Type 2B1
- "Laminopathies": a wide spectrum of human diseases
- A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block
- Inflammatory myopathy in the context of an unusual overlapping laminopathy
- LMNA-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy and Charcot-Marie-Tooth Type 2B1: A Patient-Discovered Unifying Diagnosis
- Nuclear envelope proteins and neuromuscular diseases