Muscular dystrophy and myopathy_Paediatric
Gene: MICU1

MICU1 (mitochondrial calcium uptake 1)
EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Myopathy with extrapyramidal signs is an autosomal recessive disorder characterized by early childhood onset of proximal muscle weakness and learning disabilities. While the muscle weakness is static, most patients develop progressive extrapyramidal signs that may become disabling. More than 15 families reported. p.(Gln185Ter) is a common Middle Eastern founder variant.

Elevated CK is a feature.
Created: 16 Oct 2020, 7:56 a.m. | Last Modified: 16 Oct 2020, 7:56 a.m.

Panel Version: 0.73

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy with extrapyramidal signs, MIM# 615673

Publications

Created: 16 Oct 2020, 7:56 a.m.
Last Modified: 16 Oct 2020, 7:56 a.m.
Panel version: 0.73

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Myopathy with extrapyramidal signs, MIM# 615673

Tags

founder

OMIM

605084

Clinvar variants

Variants in MICU1

Penetrance

None

Publications

Panels with this gene