TABLE 2.
Additional genes identified. AD, Autosomic Dominant; AR, Autosomic Recessive; XLD, X-Linked Dominant.
| Genes | Location | Protein | Gene ID/HGNC/MIM | Disease/MIM/Inheritance |
|---|---|---|---|---|
| GAA | 17q25.3 | Alpha Glucosidase | 2548/4065/606800 | Pompe/232300/AR |
| AGRN | 1p36.33 | Agrin | 375790/329/103320 | Congenital myasthenic syndrome-8/615120/AR |
| FLNC | 7q32.1 | Filamin C | 2318/3756/102565 | Cardiomyopathy, familial hypertrophic/617047/AD |
| Cardiomyopathy, familial restrictive/617047/AD | ||||
| Myopathy, distal/614065/AD | ||||
| Myopathy, myofibrillar/609524/AD | ||||
| LAMP2 | Xq24 | Lysosomal associated membrane protein 2 | 3920/6501/309060 | Danon/300257/XLD |
| COL6A3 | 2q37.3 | Collagen type VI alpha 3 chain | 1293/2213/120250 | Bethlem myopathy/158810/AD, AR |
| Dystonia/616411/AR | ||||
| Ullrich congenital muscular dystrophy/254090/AD, AR | ||||
| NEB | 2q23.3 | Nebulin | 4703/7720/161650 | Arthrogryposis multiplex congenita/619334/AR |
| Nemaline myopathy/256030/AR | ||||
| DYSF | 2p13.2 | Dysferlin | 8291/3097/603009 | Miyoshi muscular dystrophy/254130/AR |
| Muscular dystrophy, limb-girdle/253601/AR | ||||
| Myopathy, distal, with anterior tibial onset/606768/AR | ||||
| CHRND | 2q37.1 | Cholinergic receptor nicotinic delta subunit | 1144/1965/100720 | Myasthenic syndrome, congenital, slow-channel/616321/AD |
| Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency/616323/AR | ||||
| Multiple pterygium syndrome, lethal type/253290/AR | ||||
| Myasthenic syndrome, congenital, fast-channel/616322/AR |