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Article

Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state.

Brain & development - 1 Oct 2015

Kawase Koya, Nishino Ichizo, Sugimoto Mari, Togawa Takao, Sugiura Tokio, Kouwaki Masanori, Kibe Tetsuya, Koyama Norihisa, Yokochi Kenji

Abstract excerpt

We report a case of nemaline myopathy with KLHL40 mutation, presenting as congenital totally locked-in state. At birth, a male patient developed hydrops fetalis, which was diagnosed based on the generalized edema and pleural effusion and could perform no significant spontaneous movements. His eyes were open, without blinking, and the eyeballs were locked in the midposition. He could not express his intentions by...

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Source

Identifiers

PMID: 25721947
DOI: 10.1016/j.braindev.2015.02.002

Genes

KLHL40

Provenance

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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