Article
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.
European journal of human genetics : EJHG - 1 Apr 2025
Rahman Fatima, Marsili Luisa, Pasquetti Domizia, Rad Aboulfazl, Nadeem Anjum Muhammad, Oprea Gabriela, Cheema Huma Arshad, Vona Barbara, Augusto Alves Cesar, Houlden Henry, Maqbool Shazia, Efthymiou Stephanie, Smol Thomas, Maroofian Reza
Abstract excerpt
Myogenic fusion, primarily regulated by the Myomaker and Myomixer proteins, is essential for skeletal muscle development, yet its mechanisms remain poorly understood. This study presents the clinical and molecular details of the third and fourth reported patients with biallelic variants in MYMX, the gene that encodes Myomixer. We identified a homozygous truncating variant [c.107 T > A (p.Leu36Ter)] and a...
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