title: [A clinicopathological investigation of two autopsy cases of calpainopathy (LGMD2A)].
abstract: In this study, we compared the clinicopathological findings of two autopsy cases of patients with calpainopathy (LGMD2A) from different families. The patient in case 1 was a 72-year-old man with a history of type 2 diabetes mellitus. He exhibited recent memory impairments from the age of 70. ECG revealed an incomplete right bundle branch block. A homozygous frameshift mutation c.1796dupA was found in the CAPN3 gene. Cause of death was respiratory insufficiency and heart failure. The patient in case 2 was a 70-year-old man with a history of hypertension. ECG revealed an incomplete right bundle branch block. A homozygous missense mutation c.1080G>C (p.Trp360Cys) in CAPN3 gene was identified. Cause of death was ischemic cardiomyopathy and systemic circulatory failure. In both cases, muscle pathology revealed severe dystrophic changes. In case 2, cardiac hypertrophy and old myocardial infarcts with stenosis of coronary arteries were observed. Histological examination of the sinoatrial node showed fatty infiltration with ischemic changes in case 2. In both cases, the patients' brains showed cerebral atrophy and well preserved neurons. Calpain 3 abnormality was correlated with skeletal muscle involvement. It should be considered that LGMD2A might be complicated by dysfunction of the cardiac conduction system.
authors.affiliation: Department of Neurology, Tokushima National Hospital, National Hospital Organization.
authors.forename: Shuji
authors.initials: S
authors.lastname: Hashiguchi
authors.forename: Katsuhito
authors.initials: K
authors.lastname: Adachi
authors.forename: Toshio
authors.initials: T
authors.lastname: Inui
authors.forename: Yoshiharu
authors.initials: Y
authors.lastname: Arii
authors.forename: Setsuko
authors.initials: S
authors.lastname: Kashiwagi
authors.forename: Miho
authors.initials: M
authors.lastname: Saito
authors.forename: Noriko
authors.initials: N
authors.lastname: Kagawa
authors.forename: Hisaomi
authors.initials: H
authors.lastname: Kawai
mesh_terms: D000368:Aged; D001344:Autopsy; D001921:Brain / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000473:pathology*