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Article

COL12A1-related myopathic Ehlers-Danlos syndrome with Chiari I malformation: A clinical report.

European journal of medical genetics - 1 Dec 2025

Shinmi Jun, Takizawa Hotake, Saito Yoshihiko, Matsui Ayano, Oya Yasushi, Sakuta Ryoichi, Nishino Ichizo, Takahashi Yuji

Abstract excerpt

Myopathic Ehlers-Danlos syndrome (mEDS) is a rare connective tissue disorder caused by pathogenic variants in COL12A1. It is characterized by congenital muscle hypotonia, muscle atrophy, and age-related improvement. We report the first detailed adult patient of mEDS with a novel compound heterozygous COL12A1 variant, complicated by Chiari I malformation and hydrocephalus. The patient presented with neonatal...

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Identifiers

PMID: 42046911
DOI: 10.1016/j.ejmg.2025.105057

Genes

COL12A1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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