Genetic Qualities
Nemaline myopathy is a clinically and genetically heterogeneous disorder. Both autosomal dominant and autosomal recessive forms occur. Genetic mutations found to be responsible for the disorder include
| Gene | Type | OMIM | Locus | Notes |
|---|---|---|---|---|
| TPM3 | NEM1 | 609284 | ||
| NEB | NEM2 | 256030 | 2q22 | |
| ACTA1 | NEM3 | 161800 | 1q22-q23, 9p13.2-p13.1, 1q42.1 | |
| TPM2 | NEM4 | 609285 | ||
| TNNT1 | NEM5 | 605355 | 19q13.4 | Also known as Amish nemaline myopathy |
The physical capabilities of a given person with NM do not correlate well either with genotype or with muscle pathology as observed in the biopsy.
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