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PubMed:20598714 JSONTXT 19 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-118 Sentence denotes N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
T1 0-118 Sentence denotes N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
TextSentencer_T2 119-130 Sentence denotes BACKGROUND:
T2 119-130 Sentence denotes BACKGROUND:
TextSentencer_T3 131-355 Sentence denotes Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin.
T3 131-355 Sentence denotes Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin.
TextSentencer_T4 356-360 Sentence denotes AIM:
T4 356-360 Sentence denotes AIM:
TextSentencer_T5 361-464 Sentence denotes To report the first Serbian family with a BSCL2 mutation showing variable expression within the family.
T5 361-464 Sentence denotes To report the first Serbian family with a BSCL2 mutation showing variable expression within the family.
TextSentencer_T6 465-486 Sentence denotes PATIENTS AND METHODS:
T6 465-486 Sentence denotes PATIENTS AND METHODS:
TextSentencer_T7 487-562 Sentence denotes A 55-year-old woman presented with weakness of both hands at the age of 45.
T7 487-562 Sentence denotes A 55-year-old woman presented with weakness of both hands at the age of 45.
TextSentencer_T8 563-633 Sentence denotes At age 47, she noticed distal muscle weakness and atrophy in her legs.
T8 563-633 Sentence denotes At age 47, she noticed distal muscle weakness and atrophy in her legs.
TextSentencer_T9 634-756 Sentence denotes Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs.
T9 634-756 Sentence denotes Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs.
TextSentencer_T10 757-852 Sentence denotes There was generalized hyperreflexia with the exception of ankle reflexes which were diminished.
T10 757-852 Sentence denotes There was generalized hyperreflexia with the exception of ankle reflexes which were diminished.
TextSentencer_T11 853-921 Sentence denotes Her 25year-old son had only stiffness of both legs at the age of 22.
T11 853-921 Sentence denotes Her 25year-old son had only stiffness of both legs at the age of 22.
TextSentencer_T12 922-982 Sentence denotes Physical examination revealed only generalized hyporeflexia.
T12 922-982 Sentence denotes Physical examination revealed only generalized hyporeflexia.
TextSentencer_T13 983-1185 Sentence denotes The third affected member in this family was her 55year-old cousin who showed a more prominent involvement of leg muscles with mild asymmetrical weakness of hand muscles and no pyramidal tract features.
T13 983-1185 Sentence denotes The third affected member in this family was her 55year-old cousin who showed a more prominent involvement of leg muscles with mild asymmetrical weakness of hand muscles and no pyramidal tract features.
TextSentencer_T14 1186-1194 Sentence denotes RESULTS:
T14 1186-1194 Sentence denotes RESULTS:
TextSentencer_T15 1195-1290 Sentence denotes In all three patients sensory nerve conduction velocities (NCV) were normal in all extremities.
T15 1195-1290 Sentence denotes In all three patients sensory nerve conduction velocities (NCV) were normal in all extremities.
TextSentencer_T16 1291-1380 Sentence denotes Compound muscle action potential (CMAP) amplitudes were markedly reduced in all patients.
T16 1291-1380 Sentence denotes Compound muscle action potential (CMAP) amplitudes were markedly reduced in all patients.
TextSentencer_T17 1381-1460 Sentence denotes Concentric needle EMG showed evidence of chronic denervation in distal muscles.
T17 1381-1460 Sentence denotes Concentric needle EMG showed evidence of chronic denervation in distal muscles.
TextSentencer_T18 1461-1590 Sentence denotes DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients.
T18 1461-1590 Sentence denotes DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients.
TextSentencer_T19 1591-1602 Sentence denotes CONCLUSION:
T19 1591-1602 Sentence denotes CONCLUSION:
TextSentencer_T20 1603-1724 Sentence denotes This report is further confirmation of phenotypic heterogenity due to the N88S mutation of BSCL2 gene in the same family.
T20 1603-1724 Sentence denotes This report is further confirmation of phenotypic heterogenity due to the N88S mutation of BSCL2 gene in the same family.