Key result
Novel biallelic SPEG mutations link to moderate congenital myopathy, expanding the phenotypic spectrum beyond cardiomyopathy.
Why the study?
Recessive SPEG mutations were previously reported in centronuclear myopathy with cardiomyopathy, but their role in congenital myopathy without these features was unclear.
Case Report (n=1)
This study expands the phenotypic spectrum of SPEG-related myopathy and prompts consideration of SPEG mutations for congenital myopathies without specific histological features or cardiomyopathy.
May warrant SPEG testing in moderate congenital myopathy; extends spectrum but remains hypothesis-generating.
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy. This study expands the phenotypic spectrum of SPEG-related myopathy and prompts to consider SPEG for congenital myopathies without specific histological features.
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Lornage et al. (2018) conducted a case report in Congenital myopathy (n=1). Biallelic truncating SPEG mutations was evaluated on Phenotypic presentation. Novel biallelic truncating SPEG mutations were identified in a patient with moderate congenital myopathy, expanding the phenotypic spectrum beyond centronuclear myopathy with cardiomyopathy.
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