Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

Title

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

Creator

Roeleveld-Versteegh AB; Braun KP; Smeitink JA; Dorland L; de Koning TJ

Publisher

Journal Of Inherited Metabolic Disease

Date

2004

Subject

Child; Humans; Male; Siblings; Fatal Outcome; Preschool; infant; Q3 Literature Search; Bulbar Palsy; Mitochondrial Diseases/complications/diagnosis; Progressive/diagnosis/etiology

Description

We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in differential diagnosis of this rare clinical entity.
2004

Rights

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Type

Journal Article

Citation List Month

Backlog

Citation

Roeleveld-Versteegh AB; Braun KP; Smeitink JA; Dorland L; de Koning TJ, “Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood,” Pediatric Palliative Care Library, accessed May 30, 2024, https://pedpalascnetlibrary.omeka.net/items/show/12978.