title: Autopsy case of desminopathy involving skeletal and cardiac muscle.
abstract: Desminopathy is a familial or sporadic skeletal and cardiac muscular dystrophy caused by mutation in the desmin gene. Desmin-reactive deposits in the affected muscles are the morphological hallmarks of this disease. Herein is reported an autopsy case of a 57-year-old Japanese man with adult-onset skeletal muscle weakness and atrioventricular (A-V) conducting block, with a missense A337P mutation in exon 5 of the desmin gene. Disease onset occurred when the patient was 45 years old. The initial presentation was lower limb weakness, and the weakness progressed to the upper limbs. When the patient was 51 years old, a cardiac pacemaker was implanted due to complete A-V block. When the patient was 53 years old, respiratory insufficiency occurred due to weakness of respiratory muscles, and the patient died at the age of 57 years. On autopsy, intrasarcoplasmic desmin-immunoreactive deposits were identified in the skeletal and cardiac muscle, and abnormal accumulations of granulofilamentous material were identified at the ultrastructural level. In the cardiac conducting system, calcification was observed at the bundle of His, and sporadic calcium deposits were observed at the left and right bundle branches.
authors.affiliation: Department of Pathology II, Kansai Medical University, Moriguchi, Osaka, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Yuri
authors.forename: Katsuaki
authors.initials: K
authors.lastname: Miki
authors.forename: Reiko
authors.initials: R
authors.lastname: Tsukamoto
authors.forename: Akiyo
authors.initials: A
authors.lastname: Shinde
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Kusaka
authors.forename: Airo
authors.initials: A
authors.lastname: Tsubura
mesh_terms: D001344:Autopsy; D003893:Desmin / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000175:diagnosis* / Q000378:metabolism* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics; D009206:Myocardium / Q000378:metabolism* / Q000473:pathology / Q000648:ultrastructure; D010375:Pedigree
chemical_list: D003893:Desmin