Mitochondrial disease

Gene: MICU1

Green List (high evidence)

Myopathy with extrapyramidal signs is an autosomal recessive disorder characterised 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.

MICU1 is a subunit of the mitochondrial uniporter, a multisubunit calcium channel of the mitochondrial inner membrane.

Created: 16 Oct 2020, 7:50 a.m. | Last Modified: 16 Oct 2020, 7:50 a.m.

Panel Version: 0.510

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy with extrapyramidal signs, MIM# 615673

Publications

• 24336167
• 29721912
• 32395406