Identification of a novel mutation and genotype-phenotype relationship in MEGF10 myopathy.
Gene mutation
Literature review
Muscle CT
Muscle biopsy
Myofibrillar myopathy
Respiratory failure
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
received:
01
12
2021
revised:
17
01
2022
accepted:
21
01
2022
pubmed:
5
4
2022
medline:
18
5
2022
entrez:
4
4
2022
Statut:
ppublish
Résumé
Mutations in MEGF10 are associated with early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD). Recently, a mild variant phenotype of EMARDD has been reported in patients with multiple minicores in the myofibers. However, some reported patients had no clear cores. We present a patient who had progressive weakness since his 30 s and then developed severe respiratory failure at the age of 66 years and found that he had a novel mutation, p.G739R, in MEGF10. He had no clear core in the biopsied muscle. We summarize the clinical and genetic characteristics of the current and reported patients with MEGF10 and statistically evaluate the genotype-phenotype correlation. Results show that patients with missense mutations in at least one allele had significantly later onset than those with biallelic truncation mutations.
Identifiants
pubmed: 35370044
pii: S0960-8966(22)00025-6
doi: 10.1016/j.nmd.2022.01.009
pii:
doi:
Substances chimiques
Membrane Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
436-440Informations de copyright
Copyright © 2022 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None.