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Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.

par Palau, F;De Michele, G;Vilchez, J J;Pandolfo, Massimo ;Monrós, E;Cocozza, Sergio;Smeyers, P;Lopez-Arlandis, J;Campanella, G;di Donato, S
Référence Annals of neurology, 37, 3, page (359-362)
Publication Publié, 1995-03

Article révisé par les pairs

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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
MeSH keywords:	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 générale:	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