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554339 occurrences (No.20 in the rank) during 5 years in the PubMed. [no cache] 500 found
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554339 occurrences (No.20 in the rank) during 5 years in the PubMed. [no cache] 500 found
| 225) Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. |
| PMID:24056153 DOI:10.1177/0883073813494476 |
| 2015 Journal of child neurology |
| * Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. |
| - Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene (NEB), proved to be responsible for this muscle disease. We present a boy with nemaline myopathy type 2 (NEM2) caused by compound heterozygosity for 2 novel mutations, a deletion and a duplication in the NEB gene. The deletion was inherited from the father and the duplication from the mother. Testing all family members supports genetic counseling. |
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