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

Phenotypic Variability of <i>MEGF10</i> 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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Mohammad AlMuhaizea, Omar Dabbagh, Hanan AlQudairy, Aljouhra AlHargan, Wafa Alotaibi, Ruba Sami, Rahaf AlOtaibi, Mariam Mahmoud Ali, Hindi AlHindi, Dilek Colak, Namik Kaya
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
<i>MEGF10</i>
congenital myopathy
novel variants
splicing
convex scoliosis
butterfly vertebrae
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/9fcb860861b24a36ae417ec8d22c628e
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Internet

https://doaj.org/article/9fcb860861b24a36ae417ec8d22c628e

Ejemplares similares