Nemaline myopathy 5
| Disorder | |
|---|---|
| OMIM #: | #605355 (Click to access OMIM database) |
| Disorder: | Nemaline myopathy 5 |
| Also known as: | NEM 5 Amish nemaline myopathy Nemaline rod myopathy ANM |
| Clinical | |
| Phenotype: | Symptoms present in first months of life; tremors, hypotonia, motor delay, muscle weakness, contractures of shoulders and hips, pectus carinatum, respiratory distress which leads to death usually within the second year |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | TNNT1 |
| Base Change: | G>T, at nucleotide 538 |
| Amino Acid Change: | glu 180 --> term |
| 2 Old Colony Mennonite | |
| Gene: | TNNT1 |
| Base Change: | |
| Amino Acid Change: | whole gene deletion |
| Last updated: | 2022-11-11 |
| References |
|---|
| Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA. (2018) TNNT1 nemaline myopathy: Natural history and therapeutic frontier. Hum Mol Genet Sep 15;27(18):3272-3282. PubMed ID: 29931346 |
| Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schaffer AA, Francomano CA, Biesecker LG. (2000) A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet 67:814-821. PubMed ID: 10952871 |
| Oki K, Wei B, Feng HZ, Jin JP. (2019) The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy. J Physiol Aug;597(15):3999-4012. PubMed ID: 31148174 |
| Streff H, Bi W, Colón AG, Adesina AM, Miyake CY, Lalani SR. (2018) Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. Eur J Med Genet Nov;62(11):103567. PubMed ID: 30395933 |
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