Aberrant myonuclear domains and impaired myofiber contractility despite marked hypertrophy in MYMK-related, Carey-Fineman-Ziter Syndrome

Abstract Carey Fineman Ziter Syndrome (CFZS) is a rare autosomal recessive disease caused by mutations in the MYMK locus which encodes the protein, myomaker. Myomaker is essential for fusion and concurrent myonuclei donation of muscle progenitors during growth and development. Strikingly, in humans,...

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Detalhes bibliográficos

Principais autores:	Hannah F. Dugdale, Yotam Levy, Heinz Jungbluth, Anders Oldfors, Julien Ochala
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-05-01
coleção:	Acta Neuropathologica Communications
Assuntos:	MYMK gene Myomaker Skeletal muscle Myonuclear domain Single myofiber Carey-Fineman-Ziter Syndrome
Acesso em linha:	https://doi.org/10.1186/s40478-024-01783-2
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