Muscular dystrophy and myopathy_Paediatric
Gene: PAX7
Infantile onset of progressive muscle weakness and atrophy
PMID: 31092906
5 individuals from 4 unrelated families with consanguineous parents - all having clinical signs of myopathy from birth.
Sources: OtherCreated: 9 May 2023, 1:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 19 (MIM#618578)
Publications
5 patients from 4 unrelated consanguineous families with progressive congenital myopathy
Sources: Expert listCreated: 11 Feb 2020, 11:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, progressive, with scoliosis MIM#618578
Publications
This gene disease association is further supported by PAX7 expression studies performed in mouse and human cells, which demonstrate PAX7 expression in quiescent satellite cells, which is upregulated following satellite cell activation following muscle stimulation or trauma. (PMID 11030621: Seale et al. 2000; PMID 24065826: von Maltzahn et al. 2013; 31092906: Feichtinger et al. 2019). Additionally, PAX7 deficient mouse models recapitulate several aspects of the reported phenotype including postnatal myopathy, impaired motor skills, growth deficiency and malformation of the maxilla and nose (PMID 8631261: Mansouri et. al 1996; PMID 11030621: Seale et. al 2000). Tissue specific knock-out of PAX7 in mouse myoblasts has been shown to result in depletion of satellite cells and defective myogenesis following injury with cardiotoxin (PMID 24065826: von Maltzahn et al. 2013).Created: 20 Sep 2020, 10:44 p.m. | Last Modified: 20 Sep 2020, 10:44 p.m.
Panel Version: 0.267
Four unrelated families.
Sources: Expert listCreated: 9 Feb 2020, 10:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, progressive, with scoliosis, MIM# 618578
Publications
Gene: pax7 has been classified as Green List (High Evidence).
Gene: pax7 has been classified as Green List (High Evidence).
gene: PAX7 was added gene: PAX7 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX7 were set to 31092906 Phenotypes for gene: PAX7 were set to Congenital myopathy 19 (MIM#618578) Review for gene: PAX7 was set to GREEN