Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population

Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is a rare...

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Detalles Bibliográficos
Autores principales: AlMuhaizea, Mohammad, Dabbagh, Omar, AlQudairy, Hanan, AlHargan, Aljouhra, Alotaibi, Wafa, Sami, Ruba, AlOtaibi, Rahaf, Ali, Mariam Mahmoud, AlHindi, Hindi, Colak, Dilek, Kaya, Namik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620084/
https://www.ncbi.nlm.nih.gov/pubmed/34828389
http://dx.doi.org/10.3390/genes12111783

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