Muscular dystrophy and myopathy_Paediatric
Gene: SPEG
Variable age of onset (typically seen from birth to early childhood)
PMID: 25087613
3 unrelated individuals with myopathic changes in their biopsy findings (increased centralize nuclei) and decreased amounts of SPEG protein.
Mouse model showed the increase in centralised nuclei in muscle biopsies concordant with a clinical diagnosis of centronuclear myopathy.
PMID: 30412272
2 individuals from unrelated families with hypotonia at birth as well as other phenotypes concordant with a clinical diagnosis of centronuclear myopathy.
Sources: OtherCreated: 9 May 2023, 1:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 5, MIM# 615959
Publications
Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some individuals die in infancy, and some develop dilated cardiomyopathy.
More than 10 unrelated families reported, functional data.Created: 16 Oct 2020, 9:08 a.m. | Last Modified: 16 Oct 2020, 9:08 a.m.
Panel Version: 0.296
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Centronuclear myopathy 5, MIM# 615959
Publications
Gene: speg has been classified as Green List (High Evidence).
Gene: speg has been classified as Green List (High Evidence).
gene: SPEG was added gene: SPEG was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPEG were set to 25087613; 30412272 Phenotypes for gene: SPEG were set to Centronuclear myopathy 5, MIM# 615959 Review for gene: SPEG was set to GREEN