Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
genome sequencing
lobulate myopathy
rare disease
trabecular myopathy
undiagnosed diseases network
Journal
Neuropathology : official journal of the Japanese Society of Neuropathology
ISSN: 1440-1789
Titre abrégé: Neuropathology
Pays: Australia
ID NLM: 9606526
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
25
08
2019
revised:
02
12
2019
accepted:
11
12
2019
pubmed:
11
2
2020
medline:
2
4
2021
entrez:
11
2
2020
Statut:
ppublish
Résumé
Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygous PYROXD1 missense variants (NM_024854.5:c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.
Identifiants
pubmed: 32037607
doi: 10.1111/neup.12641
pmc: PMC7317439
doi:
Substances chimiques
Oxidoreductases Acting on Sulfur Group Donors
EC 1.8.-
PYROXD1 protein, human
EC 1.8.1.-
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
302-307Subventions
Organisme : NIH Common Fund
ID : U01HG007672
Organisme : USHHS Ruth L. Kirschstein Institutional National Research Service Award
ID : T32GM008243 (for Jeremy Woods)
Organisme : NIH Common Fund
ID : U01HG007530
Organisme : NIH Common Fund
ID : U01HG007674
Organisme : NIH Common Fund
ID : U01HG007690
Organisme : NHGRI NIH HHS
ID : U01 HG007703
Pays : United States
Organisme : NIH Common Fund
ID : U01HG007703
Informations de copyright
© 2020 The Authors. Neuropathology published by John Wiley & Sons Australia, Ltd on behalf of Japanese Society of Neuropathology.
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