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Mild congenital myopathy due to a novel variation in SPEG gene.
- Source :
-
Intractable & rare diseases research [Intractable Rare Dis Res] 2021 Aug; Vol. 10 (3), pp. 220-222. - Publication Year :
- 2021
-
Abstract
- Centronuclear myopathies (CNMs) are a subgroup of congenital myopathies (CMs) characterized by muscle weakness, genetic heterogeneity, and predominant type 1 fibers and increased central nuclei in muscle biopsy. Mutations in CNM-causing genes such as MTM1 , DNM2 , BIN1 , RYR1 , CACNA1S , TTN , and extraordinary rarely SPEG (striated muscle preferentially expressed protein kinase) have been identified for about 60-80% of patients. Herein, we report a case of CM due to a novel variation in the SPEG gene, manifested by mild neonatal hypotonia, muscle weakness, delayed motor milestones, and ophthalmoplegia, without dilated cardiomyopathy. We identified a novel variation [c.153C>T (p.Asn51=) in exon 1] in the SPEG gene with whole-exome sequencing and confirmed by Sanger sequencing. Mild intellectual disability has not been associated with SPEG-related CM in the previous reports. We suggest that this report expands the phenotypic spectrum of SPEG-related CM, and further case reports are required to expand the genotype-phenotype correlations.<br />Competing Interests: The authors have no conflicts of interest to disclose.<br /> (2021, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.)
Details
- Language :
- English
- ISSN :
- 2186-3644
- Volume :
- 10
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Intractable & rare diseases research
- Publication Type :
- Academic Journal
- Accession number :
- 34466346
- Full Text :
- https://doi.org/10.5582/irdr.2021.01034