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Article

Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene.

Journal of neuropathology and experimental neurology - 4 Dec 2020

Nagasaka Takamura, Hata Takanori, Shindo Kazumasa, Adachi Yoshiki, Takeuchi Megumi, Saito Kayoko, Takiyama Yoshihisa

Abstract excerpt

We investigated the immunohistochemical localization of several proteins related to excitation-contraction coupling and ultrastructural alterations of the sarcotubular system in biopsied muscles from a father and a daughter in a family with permanent myopathy with hypokalemic periodic paralysis (PMPP) due to a mutation in calcium channel CACNA1S; p. R1239H hetero. Immunostaining for L-type calcium channels (LCaC)...

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Identifiers

PMID: 33184660
DOI: 10.1093/jnen/nlaa098

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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