Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
Mohammad A. Al–Muhaizea(King Faisal Specialist Hospital & Research Centre), Namik Kaya(King Faisal Specialist Hospital & Research Centre), Ruba Sami(King Faisal Specialist Hospital & Research Centre), Hanan AlQudairy, Wafa Alotaibi(King Saud University), Dilek Çolak(King Faisal Specialist Hospital & Research Centre), Aljouhra AlHargan(King Faisal Specialist Hospital & Research Centre), Mariam Mahmoud Ali(King Faisal Specialist Hospital & Research Centre), Rahaf AlOtaibi(King Faisal Specialist Hospital & Research Centre), Hindi Al‐Hindi(King Faisal Specialist Hospital & Research Centre), Omar Dabbagh(King Faisal Specialist Hospital & Research Centre)
Cited by 8
Related Papers
Prevalence of keratoconus in paediatric patients in Riyadh, Saudi Arabia
|British Journal of Ophthalmology|2018|248
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
|Brain|2021|52
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
|Genetics in Medicine|2021|38
Genetic and phenotypic characterization of <i>NKX6‐2</i>‐related spastic ataxia and hypomyelination
|European Journal of Neurology|2019|23