Congenital myopathy

Gene: MICU1

Green List (high evidence)

this gene is in the muscular dystrophy panel

Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy with extrapyramidal signs, 615673 (3)

Publications

• 24336167

Green List (high evidence)

Comment when marking as ready: 7 families reported in above PMID. Although age of onset does not appear to be congenital, the earliest cases to display a muscle phenotype were within the first year of life. The muscle biopsies are consistent with the inclusion criteria and, as the extrapyramidal signs did not appear until later, I could see that in the early phase, cases may be considered as an early onset myopathy. Therefore considered green. Diagnostic testing in someone with a myopathic phenotype.

Created: 3 Feb 2017, 12:12 p.m.

Comment on list classification: 7 families reported in above PMID. Although age of onset does not appear to be congenital, the earliest cases to display a muscle phenotype were within the first year of life. The muscle biopsies are consistent with the inclusion criteria and, as the extrapyramidal signs did not appear until later, I could see that in the early phase, cases may be considered as an early onset myopathy. Therefore considered green.

Created: 3 Feb 2017, 12:12 p.m.

7 families reported in above PMID. Although age of onset does not appear to be congenital, the earliest cases to display a muscle phenotype were within the first year of life. The muscle biopsies are consistent with the inclusion criteria and, as the extrapyramidal signs did not appear until later, I could see that in the early phase, cases may be considered as an early onset myopathy. Therefore considered green.

Created: 31 Jan 2017, 10:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy with extrapyramidal signs 615673

Publications

• PMID 24336167