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

Genes - 10 Nov 2021

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

Abstract excerpt

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 autosomal recessive disorder caused by biallelic mutations (at homozygous or compound heterozygous status) in...

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PMID: 34828389
DOI: 10.3390/genes12111783
PMCID: PMC8620084

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