chromosome | gene symbol | phenotype |
| 19p13 | ? | Muscular dystrophy, autosomal dominant, with rimmed vacuoles -MDRV
|
| 19p13.11-q12 | ? | Spastic paraplegia 43, autosomal recessive -SPG43
|
| 19p13.2 | DNM2 dynamin 2 | centronuclear myopathy, dominant -CNM
|
| 19p13.2 | DNMT1 DNA (cytosine-5)-methyltransferase 1 | Hereditary sensory neuropathy with dementia and hearing loss -
Neuropathy, hereditary sensory, type 1E -HSN1E
|
| 19p13.2-p13.1 | CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | Episodic ataxia, type 2 -EA2
Cerebellar ataxia, paroxymal, acetazolamide-responsive -CAPA
Acetazolamide-responsive hereditary paroxymal cerebellar ataxia -APCA
Migraine familial hemiplegic 1, with progressive cerebellar ataxia -MHP1
Hemiplegic migraine, familial -FHM1
Spinocerebellar ataxia 6 -SCA6
Cerebellar ataxia, pure -CACNA1A
|
| 19p13.3 | ? | Spinocerebellar ataxia 26 -SCA26
|
| 19p13.3 | PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma | Lethal congenital contractural syndrome 3 -LCCS3
|
| 19p13.3-p13.2 | PNPLA6 patatin-like phospholipase domain containing 6 | Spastic paraplegia 39, autosomal recessive -SPG39
|
| 19q13 | MED25 mediator complex subunit 25 | Charcot-Marie-Tooth disease, type 2B2 -CMT2B2
|
| 19q13 | ? | Spastic paraplegia 12 -SPG12
|
| 19q13 | PRX periaxin | Charcot-Marie-Tooth disease, type 4F -CMT4F
Dejerine-Sottas neuropathy, autosomal recessive -CMT4F
|
| 19q13 | ? | episodic ataxia type-7 -EA7
|
| 19q13.1 | RYR1 ryanodine receptor 1 (skeletal) | myopathy, congenital, with fiber-type disproportion -CFTD
Central core disease -CCD
Malignant hyperthermia susceptibility 1 -MHS1
centronuclear myopathy, recessive -
minicore myopathy with external ophthalmoplegia -
|
| 19q13.3 | DMPK myotonic dystrophy protein kinase | Steinert disease -DM1
Myotonic dystrophy 1 -DM1
Dystrophia myotonica -DM
|
| 19q13.3 | GYS1 glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle) | glycogen storage disease type 0 -GSD0b
|
| 19q13.3-q13.4 | ETFB electron-transfer-flavoprotein, beta polypeptide | Electron transfer flavoprotein, Beta polypeptide -ETFB
|
| 19q13.3-q13.4 | KCNC3 potassium voltage-gated channel, Shaw-related subfamily, member 3 | Spinocerebellar ataxia 13 -SCA13
|
| 19q13.33 | FKRP fukutin-related protein | Walker-Warburg syndrome -WWS3
Muscle-eye-brain disease -MEB
Muscular dystrophy, congenital, 1C -MDC1C
Muscular dystrophy, limb-girdle, type 2I -LGMD2I
|
| 19q13.4 | TNNT1 slow troponin T | Nemaline myopathy 5 -NEM5
|
| 19q13.4 | TNNI3 troponin I, cardiac | Cardiomyopathy, familial restrictive -RCM
Cardiomyopathy, familial hypertrophic -CMH7
|
| 19q13.4 | PRKCG protein kinase C, gamma | Spinocerebellar ataxia 14 -SCA14
|