| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-115 |
Sentence |
denotes |
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. |
| T2 |
116-319 |
Sentence |
denotes |
Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis). |
| T3 |
320-456 |
Sentence |
denotes |
MPS are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal and nonlethal (Escobar) types. |
| T4 |
457-678 |
Sentence |
denotes |
Previously, we and others reported that recessive mutations in the embryonal acetylcholine receptor g subunit (CHRNG) can cause both lethal and nonlethal MPS, thus demonstrating that pterygia resulted from fetal akinesia. |
| T5 |
679-952 |
Sentence |
denotes |
We hypothesized that mutations in acetylcholine receptor-related genes might also result in a MPS/fetal akinesia phenotype and so we analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes. |
| T6 |
953-1160 |
Sentence |
denotes |
No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence. |
| T7 |
1161-1233 |
Sentence |
denotes |
Previously, RAPSN mutations have been reported in congenital myasthenia. |
| T8 |
1234-1447 |
Sentence |
denotes |
Functional studies were consistent with the hypothesis that whereas incomplete loss of rapsyn function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype. |
