Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: ACTA1Comment when marking as ready: Phenotypic overlap.Created: 29 Jun 2020, 10:18 a.m. | Last Modified: 29 Jun 2020, 10:18 a.m.
Panel Version: 0.24
PMID: 28606400 - 1 multigenerational family with dominant ACTA1-scapuloperoneal
myopathy. Proband has progressive limb weakness since childhood, spinal muscular atrophy based on two EMG analyses. Affected carrier children also reported upper limb weakness with onset in chlidhood/teenage years.
PMID: 25938801 - 1 large family (14 affecteds) with dominant ACTA1-scapuloperoneal myopathy. Muscle biopsy specimens demonstrated type I fiber atrophy. Many reported upper and lower body muscle weakness, with age of onset variable between early childhood and adulthood.
PMID: 15832616 - 1 child with a de novo missense mutation, proximal muscle weakness and hypotonia of the shoulder girdle
Sources: Expert listCreated: 29 Jun 2020, 2:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myopathy, scapulohumeroperoneal 616852
Publications
Gene: acta1 has been classified as Green List (High Evidence).
Publications for gene: ACTA1 were set to PMID: 28606400; 25938801
Phenotypes for gene: ACTA1 were changed from ?Myopathy, scapulohumeroperoneal 616852 to Myopathy, scapulohumeroperoneal 616852
Gene: acta1 has been classified as Green List (High Evidence).
gene: ACTA1 was added gene: ACTA1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTA1 were set to PMID: 28606400; 25938801 Phenotypes for gene: ACTA1 were set to ?Myopathy, scapulohumeroperoneal 616852 Review for gene: ACTA1 was set to GREEN