Titre :
  • Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.
Auteur : Palau, F ; De Michele, G ; Vilchez, J J ; Pandolfo, Massimo ; Monrós, E ; Cocozza, Sergio ; Smeyers, P ; Lopez-Arlandis, J ; Campanella, G ; di Donato, S
Informations sur la publication : Annals of neurology, 37, 3, (page 359-362)
Statut de publication : Publié, 1995-03
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Adolescent
Adult
Atrophy
Cardiomyopathy, Hypertrophic -- diagnosis
Cardiomyopathy, Hypertrophic -- etiology
Cardiomyopathy, Hypertrophic -- genetics
Cerebellum -- pathology
Child
Child, Preschool
Chromosome Mapping
Chromosomes, Human, Pair 9
Echocardiography
Female
Friedreich Ataxia -- complications
Friedreich Ataxia -- genetics
Friedreich Ataxia -- physiopathology
Humans
Lod Score
Magnetic Resonance Imaging
Male
Pedigree
Phenotype
Point Mutation
Polymorphism, Restriction Fragment Length
Reflex, Stretch -- physiology
Repetitive Sequences, Nucleic Acid
Spinal Cord -- pathology
Note : Journal Article
Research Support, Non-U.S. Gov't
FLWNA
Langue :
  • Anglais
Identificateurs : urn:issn:0364-5134 
info:doi/10.1002/ana.410370312
info:pmid/7695235