Congenital muscular dystrophy with short stature, proximal contractures and distal laxity

Abstract: Sono presentati cinque casi diagnosticati con distrofia muscolare congenita associata a bassa statura, rigidità della spina dorsale, problemi respiratori e ritardo mentale lieve. La biopsia del tessuto muscolare ha rilevato valori non significativi del collagene e nessun collegamento di tipo genetico. Gli autori ipotizzano la presenza di un fenotipo specifico.

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Description	Congenital muscular dystrophy with short stature, proximal contractures and distal laxity / Mercuri, Eugenio; Lampe, Anne; Straub, Volker; Yuva, Yuvaraj; Longman, Cheryl; Wright, Michael; Brown, Susan; Sewry, Caroline; Bonnemann, Carsten; Kinali, Maria; Brockington, Martin; Hausser, Ingrid; Hilton Jones, David; Voit, Thomas; Bushby, Kate; Muntoni, Francesco. - Neuropediatrics, 2004, 35, 4 ; pp. 224-229
	[Is part of] Neuropediatrics : Journal of pediatric neurobiology, neurology and neurogenetics / Voit, Thomas 2004, 35, 4 ; pp. 224-229
Numbers	ISSN: 0174-304X
Authors	Bonnemann, Carsten - [Author] Brockington, Martin - [Author] Brown, Susan - [Author] Bushby, Kate M. D. - [Author] Hausser, Ingrid - [Author] Hilton Jones, David - [Author] Kinali, Maria - [Author] Lampe, Anne - [Author] Longman, Cheryl - [Author] Muntoni, Francesco - [Author] Sewry, Caroline - [Author] Straub, Volker - [Author] Voit, Thomas - [Author] Wright, Michael - [Author] Yuva, Yuvaraj - [Author] Mercuri, Eugenio - [Main author] - [Author]
Publishing location	Stuttgart
Editor	Georg Thieme Verlag - [Editor/publisher]
Custom lists	Tag Disabilità - Disabilità Motoria / Motor Disability Malattia - Deficit Neurologico / Neurological Impairment Medicina - Clinico-Sanitario / Clinical-Healthcare Medicina - Genetica - Fenotipo / Phenotype Medicina - Processi - Eziologia-Causa / Etiology-Cause Medicina - Sindromi - Sindrome / Syndrome Motorio - Motricità-Abilità e Funzioni Motorie / Motor Skills-Motor Ability Test-Questionario / Questionnaire Valutazione / Assessment
Language	English
ID file	17417
Permalink	https://biblioteca.legadelfilodoro.it/?ids=17417

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Bonnemann, Carsten

Congenital muscular dystrophy with short stature, proximal contractures and distal laxity

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