Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.
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.
Luan
Xinghua
X
Department of Neurology and Laboratory of Neuropathology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing 100034, China.
Chen
Bin
B
Liu
Yang
Y
Zheng
Riliang
R
Zhang
Wei
W
Yuan
Yun
Y
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
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