Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations

ABSTRACT 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...

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Published in:Muscle & nerve 2016-06, Vol.53 (6), p.984-988
Main Authors: Liewluck, Teerin, Milone, Margherita, Tian, Xia, Engel, Andrew G., Staff, Nathan P., Wong, Lee-Jun
Format: Article
Language:English
Subjects:
Adult
Family Health
Female
Genes
Humans
joint hyperlaxity
Joint Instability - complications
Joint Instability - genetics
MEGF10
Membrane Proteins - genetics
multiminicore disease
Mutation
Mutation - genetics
Myopathies, Structural, Congenital - complications
Myopathies, Structural, Congenital - genetics
myopathy
myotonic discharges
Ophthalmoplegia - complications
Ophthalmoplegia - genetics
respiratory insufficiency
Respiratory Insufficiency - complications
Respiratory Insufficiency - genetics
Ryanodine Receptor Calcium Release Channel - deficiency
Ryanodine Receptor Calcium Release Channel - genetics
Scoliosis
Scoliosis - complications
Scoliosis - genetics
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Summary:ABSTRACT 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. Muscle Nerve, 2016 Muscle Nerve 53: 984–988, 2016
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.25054