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PubmedHPO

Id Subject Object Predicate Lexical cue
T1 232-251 HP_0000007 denotes autosomal recessive

PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T1 200-441 OBJECTIVE denotes To report the occurrence of the autosomal recessive form of demyelinating Charcot-Marie-Tooth disease (CMT) with a locus on chromosome 5q23-33 in six non-related European families, to refine gene mapping, and to define the disease phenotype.
T2 451-829 METHODS denotes In an Algerian patient with autosomal recessive demyelinating CMT mapped to chromosome 5q23-q33 the same unique nerve pathology was established as previously described in families with a special form of autosomal recessive demyelinating CMT. Subsequently, the DNA of patients with this phenotype was tested from five Dutch families and one Turkish family for the 5q23-q33 locus.
T3 839-1414 RESULTS denotes These patients and the Algerian families showed a similar and highly typical combination of clinical and morphological features, suggesting a common genetic defect. A complete cosegregation for markers D5S413, D5S434, D5S636, and D5S410 was found in the families. Haplotype construction located the gene to a 7 cM region between D5S643 and D5S670. In the present Dutch families linkage disequilibrium could be shown for various risk alleles and haplotypes indicating that most of these families may have inherited the underlying genetic defect form a common distant ancestor.
T4 1428-2107 CONCLUSIONS denotes This study refines the gene localisation of autosomal recessive demyelinating CMT, mapping to chromosome 5q23-33 and defines the phenotype characterised by a precocious and rapidly progressive scoliosis in combination with a relatively mild neuropathy and a unique pathology. Morphological alterations in Schwann cells of the myelinated and unmyelinated type suggest the involvement of a protein present in both Schwann cell types or an extracellular matrix protein rather than a myelin protein. The combination of pathological features possibly discerns autosomal recessive demyelinating CMT with a gene locus on chromosome 5q23-33 from other demyelinating forms of CMT disease.

PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 97-115 DiseaseOrPhenotypicFeature denotes sensory neuropathy 0002321
T2 117-144 DiseaseOrPhenotypicFeature denotes Charcot-Marie-Tooth disease 0015626
T3 274-301 DiseaseOrPhenotypicFeature denotes Charcot-Marie-Tooth disease 0015626
T4 303-306 DiseaseOrPhenotypicFeature denotes CMT 0015626
T5 513-516 DiseaseOrPhenotypicFeature denotes CMT 0015626
T6 688-691 DiseaseOrPhenotypicFeature denotes CMT 0015626
T7 996-1002 DiseaseOrPhenotypicFeature denotes defect 0008568
T8 1376-1382 DiseaseOrPhenotypicFeature denotes defect 0008568
T9 1506-1509 DiseaseOrPhenotypicFeature denotes CMT 0015626
T10 1621-1630 DiseaseOrPhenotypicFeature denotes scoliosis 0005392
T11 1669-1679 DiseaseOrPhenotypicFeature denotes neuropathy 0005244
T12 2017-2020 DiseaseOrPhenotypicFeature denotes CMT 0015626
T13 2095-2098 DiseaseOrPhenotypicFeature denotes CMT 0015626