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Statements

Subject Item
dbr:Autosomal_dominant_Charcot-Marie-Tooth_disease_type_2_with_giant_axons
rdf:type
owl:Thing wikidata:Q12136 dbo:Disease
rdfs:label
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
rdfs:comment
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons is a rare subtype of hereditary motor and sensory neuropathy of the axons which is characterized by symptoms similar to those from Charcot-Marie-Tooth disease and autosomal dominant inheritance.
dbp:name
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
dcterms:subject
dbc:Autosomal_dominant_disorders
dbo:wikiPageID
71071162
dbo:wikiPageRevisionID
1120060495
dbo:wikiPageWikiLink
dbr:Missense_mutations dbr:Arreflexia dbc:Autosomal_dominant_disorders dbr:Hyporreflexia dbr:Axons dbr:Chromosome_1 dbr:Germany dbr:Muscle_atrophy dbr:Pes_cavus dbr:R317C dbr:Genetic_mutation dbr:Cardiomyopathy dbr:Muscle_cramps dbr:Dominance_(genetics) dbr:Nerve_biopsy dbr:Neurology dbr:Genetic_testing dbr:Medical_genetics dbr:DCAF8 dbr:Charcot-Marie-Tooth_disease dbr:Hereditary_motor_and_sensory_neuropathy
owl:sameAs
n4:2som9 wikidata:Q30989381
dbp:specialty
dbr:Neurology dbr:Medical_genetics
dbp:wikiPageUsesTemplate
dbt:Reflist dbt:Infobox_medical_condition
dbp:deaths
2
dbp:onset
Early
dbp:symptoms
mainly characterized by neurologic/sensory anomalies
dbp:causes
dbr:Genetic_mutation
dbp:duration
Lifelong
dbp:frequency
rare, about 10-20 or more cases from 2 families have been described
dbp:synonyms
Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons, CMT2 with giant axons, MSN2 with giant axons.
dbo:abstract
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons is a rare subtype of hereditary motor and sensory neuropathy of the axons which is characterized by symptoms similar to those from Charcot-Marie-Tooth disease and autosomal dominant inheritance.
dbp:prevention
None
dbp:prognosis
Medium
prov:wasDerivedFrom
wikipedia-en:Autosomal_dominant_Charcot-Marie-Tooth_disease_type_2_with_giant_axons?oldid=1120060495&ns=0
dbo:wikiPageLength
6536
dbo:alias
Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons, CMT2 with giant axons, MSN2 with giant axons.
foaf:isPrimaryTopicOf
wikipedia-en:Autosomal_dominant_Charcot-Marie-Tooth_disease_type_2_with_giant_axons