Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing.
Neuropathology
; 40(3): 302-307, 2020 Jun.
Article
en En
| MEDLINE
| ID: mdl-32037607
ABSTRACT
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_024854.5c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Oxidorreductasas actuantes sobre Donantes de Grupos Sulfuro
/
Enfermedades Musculares
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neuropathology
Asunto de la revista:
NEUROLOGIA
/
PATOLOGIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Estados Unidos