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

Muscle & Nerve
Teerin LiewluckLee-Jun Wong

Abstract

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. 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. 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. MEGF10 mutations can cause myopathy with adult-onset respiratory insufficiency. Muscle Nerve, 2016 Muscle Nerve 53: 984-988, 2016.

References

Nov 3, 2004·Journal of Medical Genetics·A M KaindlA Huebner
Apr 21, 2007·Annals of Neurology·Virginie CarmignacAna Ferreiro
Dec 7, 2007·The Journal of Cell Biology·Chet E HoltermanMichael A Rudnicki
Aug 19, 2008·Journal of Neuroimmunology·M KinaliS A Robb
Oct 30, 2008·Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation·W TanisF H de Man
Sep 21, 2011·Molecular Genetics and Metabolism·Mark RobertsLaura E Case
Dec 17, 2011·Seminars in Pediatric Neurology·Heinz JungbluthFrancesco Muntoni
Jul 13, 2012·Neuromuscular Disorders : NMD·T CullupH Jungbluth
Jul 24, 2012·American Journal of Human Genetics·Karen MajczenkoJames J Dowling
May 10, 2013·Muscle & Nerve·Paulo José LorenzoniLineu Cesar Werneck
Oct 10, 2013·Human Molecular Genetics·Claire ChauveauAna Ferreiro
Nov 8, 2014·Journal of Neurology·Gerald PfefferPatrick F Chinnery

❮ Previous
Next ❯

Citations

Jul 19, 2016·Current Opinion in Neurology·Robin S Howard
Feb 10, 2017·Muscle & Nerve·Elie Naddaf, Margherita Milone
May 13, 2017·Human Molecular Genetics·Madhurima SahaPeter B Kang
Feb 3, 2018·Nature Reviews. Neurology·Heinz JungbluthFrancesco Muntoni
Jul 4, 2019·Human Molecular Genetics·Madhurima SahaPeter B Kang
May 28, 2020·International Journal of Molecular Sciences·George Konstantinos PapadimasConstantinos Papadopoulos
Feb 17, 2019·Nature Communications·María Cristina EstañVictor L Ruiz-Perez
Jul 31, 2021·FEBS Open Bio·Catherine Wicker-PlanquartNicole M Thielens

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.