title: Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy.
abstract: The aim of the present study was to report on a family with pathologically and genetically diagnosed autosomal dominant inherited centronuclear myopathy (CNM). In addition, this study aimed to investigate the clinical, pathological and molecular genetic characteristics of the disease. This pedigree was traced back three generations, four patients underwent neurological examination, two patients underwent muscle biopsy, and eight family members were subjected to dynamin 2 (DNM2) gene mutation analysis. DNM2 mutations were detected in seven family members, of which four patients exhibited DNM2 mutation‑specific clinical and pathological features. Lower extremity weakness was the predominant symptom of these patients, however, proximal and distal lower extremity involvement was inconsistent. All patients exhibited marked systematic muscle atrophy and various degrees of facial muscle involvement. The patients presented the typical pathological changes of CNM, and their muscle tissues were heavily replaced by adipose tissue, with clustered distribution of muscle fibers as another notable feature. DNM2‑CNM patients of this pedigree exhibited heterogeneous clinical and pathological features, providing a basis for further molecular genetic analysis.
authors.affiliation: Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong 250012, P.R. China.
authors.forename: Xinhong
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Radiology, Tai'an Central Hospital, Tai'an, Shandong 271000, P.R. China.
authors.forename: Huamin
authors.initials: H
authors.lastname: Wu
authors.affiliation: Department of Digestive System, Tai'an Central Hospital, Tai'an, Shandong 271000, P.R. China.
authors.forename: Jian
authors.initials: J
authors.lastname: Gong
authors.affiliation: Department of Neurology, Tai'an Central Hospital, Tai'an, Shandong 271000, P.R. China.
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.affiliation: Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong 250012, P.R. China.
authors.forename: Chuanzhu
authors.initials: C
authors.lastname: Yan
mesh_terms: D034285:Dynamin II; D034281:Dynamins / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree
chemical_list: C000593490:DNM2 protein, human; D034285:Dynamin II; D034281:Dynamins