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| GENATLAS PHENOTYPE |
| last update : 10-04-2018 |
| Symbol | NEM7 |
| Location | 14q13.1 |
| Name | nemaline myopathy 7 |
| Corresponding gene | CFL2 |
| Main clinical features | congenital myopathy with neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy; at the biopsy, muscle contained characteristic nemaline bodies, as well as occasional fibers with minicores, |
| Genetic determination | autosomal recessive |
| Function/system disorder | neuromuscular |
| Type | disease |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| missense | abnormal protein/loss of function | result in reduced depolymerization of actin filaments, causing their accumulation in nemaline bodies, minicores, and, possibly, concentric laminated bodies |
| Remark(s) |