Muscular dystrophy and myopathy_Paediatric
Gene: OPA1
A single case with centronuclear myopathy
Sources: LiteratureCreated: 1 Aug 2024, 1:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myopathy MONDO:0019952
Publications
PMID: 21112924 - two siblings with gait difficulties due to a moderate spastic
pyramidal syndrome in 2nd decade of life. Diagnosed with Behr syndrome
PMID: 31152339 - 1 patient with weakness for elbow flexion and finger straddling, with reduced complex I, II and IV on muscle biopsy. Normal CK levels. Only visual/hearing impairments reported specifically in childhood. Authors note variants in exons 14-17 are mor frequently associated with ADOA plus
PMID: 26561570 - 1 family (two siblings) with infantile mitochondrial encephalomyopathy,
hypertrophic cardiomyopathy and optic atrophy. Patients were homozygous for a missense variant, inherited from unaffected parents. Reported truncal hypotonia, generalized hypotonia and significant muscle wasting at 2 months old.
PMID: 20157015 - a 1/104 patients reported with ADOA plus with myopathy in childhood. Additional patients also show myopathy but onset trended to be >30 years old.
Summary: paediatric myopathy reported but is a rare presentation
Sources: Expert listCreated: 22 Jun 2020, 12:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome 125250
Publications
Gene: opa1 has been classified as Red List (Low Evidence).
gene: OPA1 was added gene: OPA1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA1 were set to 38982518 Phenotypes for gene: OPA1 were set to congenital myopathy MONDO:0019952 Review for gene: OPA1 was set to RED