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Updated: Apr 29, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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

Jun Shinmi1, Hotake Takizawa1, Yoshihiko Saito2

  • 1Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

European Journal of Medical Genetics
|April 28, 2026
PubMed

Keywords:
COL12A1Chiari Ⅰ malformationMyopathic Ehlers–Danlos syndrome

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