| Symbol
| NEM5
|
| Location
| 19q13.42
|
| Name
|
nemaline myopathy 5 |
| Corresponding gene
|
TNNT1
|
| Main clinical features
|
Amish type
onset in first months of life with tremors, hypotonia, mild contractures of shoulder and hips, progressive worsening death in the second year due to respiratory insufficiency |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| neuromuscular |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| nonsense
|
| truncated protein
| mutant having substantially lower affinity for binding to tropomyosin, in keeping with the loss of one of two tropomyosin-binding sites
| |
| Remark(s)
|
. hypothesis that the function of slow fibres can be restored in NEM5 patients if a therapeutic supplement of TNNT1 is achieved (PMID: 24445317)) |