Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A

Xinghua Luan; Bin Chen; Yang Liu; Riliang Zheng; Wei Zhang; Yun Yuan

doi:10.1111/j.1440-1789.2008.00985.x

Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A

Neuropathology. 2009 Oct;29(5):579-84. doi: 10.1111/j.1440-1789.2008.00985.x. Epub 2008 Dec 3.

Authors

Xinghua Luan¹, Bin Chen, Yang Liu, Riliang Zheng, Wei Zhang, Yun Yuan

Affiliation

¹ Department of Neurology and Laboratory of Neuropathology, Peking University First Hospital, 8 Xishiku St, Xicheng District, Beijing 100034, China.

PMID: 19077043
DOI: 10.1111/j.1440-1789.2008.00985.x

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.

Publication types

Case Reports

MeSH terms

Adolescent
Adult
Aged
Dysferlin
Family
Female
Humans
Male
Membrane Proteins / metabolism
Middle Aged
Muscle Proteins / metabolism
Mutation, Missense*
Myopathies, Structural, Congenital / genetics*
Myopathies, Structural, Congenital / metabolism
Myopathies, Structural, Congenital / pathology
NAV1.4 Voltage-Gated Sodium Channel
Paralysis / genetics*
Paralysis / metabolism
Paralysis / pathology
Pedigree
Sodium Channels / genetics*
Ubiquitin / metabolism
tau Proteins / metabolism

Substances

DYSF protein, human
Dysferlin
MAPT protein, human
Membrane Proteins
Muscle Proteins
NAV1.4 Voltage-Gated Sodium Channel
SCN4A protein, human
Sodium Channels
Ubiquitin
tau Proteins