title: Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.
abstract: T704M mutations in SCN4A have recently been identified in families with paralysis periodica paramyotonica. Here we report the pathological features of intracellular tubular aggregates (TAs) on muscle biopsy in one family with T704M mutations of SCN4A. Tau, dysferlin and ubiquitin were all expressed in areas of tubule accumulation. These observations confirmed that TAs were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica. Some proteins can mislocate in the TAs.
authors.affiliation: Department of Neurology and Laboratory of Neuropathology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing 100034, China.
authors.forename: Xinghua
authors.initials: X
authors.lastname: Luan
authors.forename: Bin
authors.initials: B
authors.lastname: Chen
authors.forename: Yang
authors.initials: Y
authors.lastname: Liu
authors.forename: Riliang
authors.initials: R
authors.lastname: Zheng
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Yun
authors.initials: Y
authors.lastname: Yuan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000073939:Dysferlin; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism; D008875:Middle Aged; D009124:Muscle Proteins / Q000378:metabolism; D020125:Mutation, Missense; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D062553:NAV1.4 Voltage-Gated Sodium Channel; D010243:Paralysis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D015222:Sodium Channels / Q000235:genetics*; D025801:Ubiquitin / Q000378:metabolism; D016875:tau Proteins / Q000378:metabolism
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; C054369:MAPT protein, human; D008565:Membrane Proteins; D009124:Muscle Proteins; D062553:NAV1.4 Voltage-Gated Sodium Channel; C106251:SCN4A protein, human; D015222:Sodium Channels; D025801:Ubiquitin; D016875:tau Proteins