Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A case of laminopathy with the mutation of LMNA gene identified by the exome analysis of disease-related genes

Kenichiro Nakamura, M.D., Ph.D.1), Takao Matsuda, M.D., Ph.D.2), Takuya Hanaoka, M.D., Ph.D.1)3), Katsumasa Goto, M.D., Ph.D.1) and Etsuro Matsubara, M.D., Ph.D.3)

1) Department of Neurology, Nishibeppu National Hospital
2) Department of Reproductive Medicine and Genetics, Nishibeppu National Hospital
3) Department of Neurology, Faculty of Medicine, Oita University

Laminopathy, caused by mutations in the LMNA gene, include a variety of diseases, such as Emery-Dreifuss muscular dystrophy. A Japanese woman developed progressive muscle weakness, muscle atrophy and joint contractures of upper and lower limbs after the age of two years old. She had restrictive respiratory dysfunction, and developed both supraventricular and ventricular arrhythmias after the fourth decade of life. At 55 years old, she had tracheostomy, required mechanical ventilation and was implanted with the implantable cardioverter defibrillator. The serum level of creatine kinase was within normal range. Electromyography showed polyphasic or large motor unit potentials and reduced interference pattern, while relatively normal recruitment. The exome analysis of disease-related genes revealed a heterozygous pathogenic variant c.1072G>A (p.E358K) in the LMNA gene, which contributed to the diagnosis of laminopathy.
Full Text of this Article in Japanese PDF (2683K)

(CLINICA NEUROL, 61: 663−670, 2021)
key words: laminopathy, LMNA, Emery-Dreifuss muscular dystrophy, needle electromyography, exome analysis

(Received: 6-May-21)