Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: SVIL
Onset is typically within the first or second decade of life while some individuals of onset in early childhood.
Typical features at onset is muscle pain, cramping, and exercise fatigue.
PMID: 32779703
2 affected individuals from 2 unrelated consanguineous families with hypertrophic muscles and muscle rigidity
Sources: OtherCreated: 10 May 2023, 12:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myofibrillar myopathy 10 (MIM#619040)
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myofibrillar myopathy, MIM#619040
Publications
Four patients from two unrelated consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. Functional studies on muscle biopsies showed complete loss protein in muscle fibres by western blot.
Sources: LiteratureCreated: 7 Sep 2020, 5:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
myopathy
Publications
Gene: svil has been classified as Amber List (Moderate Evidence).
Gene: svil has been classified as Amber List (Moderate Evidence).
gene: SVIL was added gene: SVIL was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: SVIL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SVIL were set to 32779703 Phenotypes for gene: SVIL were set to Myofibrillar myopathy 10 (MIM#619040) Review for gene: SVIL was set to AMBER