Muscular dystrophy and myopathy_Paediatric

Gene: OPA1

Red List (low evidence)

A single case with centronuclear myopathy
Sources: Literature

Created: 1 Aug 2024, 1:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy MONDO:0019952

Publications

• 38982518

I don't know

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 list

Created: 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

• PMID: 21112924
• 31152339
• 26561570