Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

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 mut

SUBMITTER: Qualls AE 

PROVIDER: S-EPMC7288247 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature