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

AlMuhaizea, Mohammad; Dabbagh, Omar; AlQudairy, Hanan; AlHargan, Aljouhra; Alotaibi, Wafa; Sami, Ruba; AlOtaibi, Rahaf; Ali, Mariam Mahmoud; AlHindi, Hindi; Colak, Dilek; Kaya, Namik

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

AlMuhaizea, Mohammad; Dabbagh, Omar; AlQudairy, Hanan; AlHargan, Aljouhra; Alotaibi, Wafa; Sami, Ruba; AlOtaibi, Rahaf; Ali, Mariam Mahmoud; AlHindi, Hindi; Colak, Dilek; Kaya, Namik.

Afiliación

AlMuhaizea M; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Dabbagh O; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
AlQudairy H; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh 11211, Saudi Arabia.
AlHargan A; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh 11211, Saudi Arabia.
Alotaibi W; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Sami R; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
AlOtaibi R; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Ali MM; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
AlHindi H; Department of Pathology and Laboratory Medicine, KFSHRC, Riyadh 11211, Saudi Arabia.
Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh 11211, Saudi Arabia.
Kaya N; Department of Translational Genomics, Center for Genomic Medicine, KFSHRC, Riyadh 11211, Saudi Arabia.

Genes (Basel) ; 12(11)2021 11 10.

Article en En | MEDLINE | ID: mdl-34828389

Asunto(s)

Proteínas de la Membrana/genética; Miotonía Congénita/genética; Fenotipo; Preescolar; Consanguinidad; Humanos; Lactante; Masculino; Miotonía Congénita/patología; Linaje

Palabras clave

MEGF10; atelectasis; bronchiectasis; butterfly vertebrae; congenital myopathy; convex scoliosis; flexion deformity; novel variants; splicing; subluxation

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Proteínas de la Membrana / Miotonía Congénita Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita

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