| Symbol
| BROD
|
| Location
| 16p12.1
|
| Name
|
Brody myopathy |
| Corresponding gene
|
ATP2A1
|
| Main clinical features
|
a lifelong history of exercise-induced impairment of muscle relaxation, stiffness and cramps
disorder of muscle function that is characterized by painless muscle cramping and exercise-induced impairment of muscle relaxation |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| neuromuscular |
| Type
| disease
|
| Name
| ATPase, Ca++ transporting (ATP2A1)
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| various types
|
| truncated protein
| one mutation at the splice donor site of intron 3, two mutations leading to premature stop codons
| | missense
|
|
| mutations T2366C, T2455C
| |