Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations
AE Qualls, S Donkervoort, JC Herkert… - Muscle & …, 2019 - Wiley Online Library
Muscle & nerve, 2019•Wiley Online Library
ABSTRACT Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital
myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and
increased central nuclei. SPEG (striated preferentially expressed protein kinase) mutations
have recently been identified in 7 CM patients (6 with CNMs). We report 2 additional patients
with SPEG mutations expanding the phenotype and evaluate genotype–phenotype
correlations associated with SPEG mutations. Methods: Using whole exome/genome …
myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and
increased central nuclei. SPEG (striated preferentially expressed protein kinase) mutations
have recently been identified in 7 CM patients (6 with CNMs). We report 2 additional patients
with SPEG mutations expanding the phenotype and evaluate genotype–phenotype
correlations associated with SPEG mutations. Methods: Using whole exome/genome …
Abstract
Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) characterized by muscle weakness, predominant type 1 fibers, and increased central nuclei. SPEG (striated preferentially expressed protein kinase) mutations have recently been identified in 7 CM patients (6 with CNMs). We report 2 additional patients with SPEG mutations expanding the phenotype and evaluate genotype–phenotype correlations associated with SPEG mutations.
Methods: Using whole exome/genome sequencing in CM families, we identified novel recessive SPEG mutations in 2 patients.
Results: Patient 1, with severe muscle weakness requiring respiratory support, dilated cardiomyopathy, ophthalmoplegia, and findings of nonspecific CM on muscle biopsy carried a homozygous SPEG mutation (p.Val3062del). Patient 2, with milder muscle weakness, ophthalmoplegia, and CNM carried compound heterozygous mutations (p.Leu728Argfs*82) and (p.Val2997Glyfs*52).
Conclusions: The 2 patients add insight into genotype–phenotype correlations of SPEG‐associated CMs. Clinicians should consider evaluating a CM patient for SPEG mutations even in the absence of CNM features. Muscle Nerve 59:357–362, 2019
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