Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: DESComment on list classification: Myofibrillar myopathy is characterized by slowly progressive muscle weakness, from distal to proximal lower extremitiesCreated: 13 Apr 2023, 9:42 a.m. | Last Modified: 13 Apr 2023, 9:42 a.m.
Panel Version: 0.83
Comment when marking as ready: Variable presentation, some overlap with LGMD.Created: 1 Jul 2020, 7:45 a.m. | Last Modified: 1 Jul 2020, 7:45 a.m.
Panel Version: 0.39
PMID: 20718792: large review of >100 patients. >70% had myopathy or muscle weakness, 67% presented with both distal and proximal muscle weakness.
Authors note myopathy generally begins with distal limbs, progressing later in life to proximal limb involvement.
Sources: Expert listCreated: 1 Jul 2020, 12:52 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 1 601419
Publications
Many missense variants previously reported. Myopathy or muscle weakness is a common feature, with mean age of onset being 35 (Review article: PMID: 20718792). Onset usually in second or third decades (OMIM). Can be AD or AR, with AR presenting with early and faster disease progression.Created: 17 Jun 2020, 3 a.m. | Last Modified: 17 Jun 2020, 3 a.m.
Panel Version: 0.69
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 1 (MIM#601419)
Publications
Gene: des has been classified as Green List (High Evidence).
Gene: des has been classified as Green List (High Evidence).
Gene: des has been classified as Amber List (Moderate Evidence).
Gene: des has been classified as Amber List (Moderate Evidence).
gene: DES was added gene: DES was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: DES was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DES were set to PMID: 20718792 Phenotypes for gene: DES were set to Myopathy, myofibrillar, 1 601419 Review for gene: DES was set to AMBER