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Updated: Aug 25, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Second female case of Myhre syndrome
M G Lopez-Cardona1, D Garcia-Cruz, J E Garcia-Ortiz
1Divisiones de Medicina Molecular y Genetica, Centro de Investigacion Biomedica de Occidente Servicio de Otorrinolaringologia, Hospital de Especialidades Cirugia Pediatrica, Hospital de Pediatria, CMNO, IMSS Hospital General Regional 46, IMSS Doctorado de Genetica Humana, CUCS, Universidad de Guadalajara CIATEJ (CONACYT), Guadalajara, Jalisco Departamento de Inmunobiologia Molecular, Centro de Investigación Biomédica, Facultad de Medicina, Universidad Autonoma de Coahuila. Torreon, Coahuila, Mexico.
Abstract:
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.
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