Journal
MUSCLE & NERVE
Volume 53, Issue 6, Pages 984-988Publisher
WILEY-BLACKWELL
DOI: 10.1002/mus.25054
Keywords
joint hyperlaxity; MEGF10; multiminicore disease; myopathy; myotonic discharges; respiratory insufficiency; scoliosis
Categories
Ask authors/readers for more resources
Introduction: Multiminicore disease is a congenital myopathy characterized pathologically by the presence of multiple minicore structures in the sarcoplasm. Mutations in the selenoprotein N1-encoding gene (SEPN1) and ryanodine receptor 1-encoding gene (RYR1) are responsible for half of the reported cases. Mutations in multiple epidermal growth factor-like domains 10-encoding gene (MEGF10) have been identified only recently in a few patients with antenatal to infantile-onset myopathy, with and without minicore pathology. Methods: We report 2 sisters with adult-onset respiratory insufficiency followed by development of limb weakness. Both had scoliosis, distal joint hyperlaxity, and high-arched feet. Results: A biopsy of the right triceps muscle in 1 sister showed multiple minicore structures. She had electromyographic changes of myopathy with fibrillation potentials and myotonic discharges. Next generation sequencing identified novel compound heterozygous missense variants in MEGF10 c.230G>A (p. Arg77Gln) and c.1833T>G (p.Cys611Trp) in both sisters. Conclusions: MEGF10 mutations can cause myopathy with adult-onset respiratory insufficiency.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available