Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

A B C Roeleveld-Versteegh; K P J Braun; J A M Smeitink; L Dorland; T J de Koning

doi:10.1023/b:boli.0000028836.91788.30

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

A B C Roeleveld-Versteegh^*
, K P J Braun
, J A M Smeitink
, L Dorland
, T J de Koning

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

3 Citations (Scopus)

Abstract

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 the differential diagnosis of this rare clinical entity.

Original language	English
Pages (from-to)	281-283
Number of pages	3
Journal	Journal of Inherited Metabolic Disease
Volume	27
Issue number	2
DOIs	https://doi.org/10.1023/b:boli.0000028836.91788.30
Publication status	Published - 2004
Externally published	Yes

Keywords

Bulbar Palsy, Progressive/diagnosis
Child, Preschool
Fatal Outcome
Humans
Infant
Male
Mitochondrial Diseases/complications
Siblings

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Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
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title = "Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood",

abstract = "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 the differential diagnosis of this rare clinical entity.",

keywords = "Bulbar Palsy, Progressive/diagnosis, Child, Preschool, Fatal Outcome, Humans, Infant, Male, Mitochondrial Diseases/complications, Siblings",

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AU - Roeleveld-Versteegh, A B C

AU - Braun, K P J

AU - Smeitink, J A M

AU - Dorland, L

AU - de Koning, T J

PY - 2004

Y1 - 2004

N2 - 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 the differential diagnosis of this rare clinical entity.

AB - 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 the differential diagnosis of this rare clinical entity.

KW - Bulbar Palsy, Progressive/diagnosis

KW - Child, Preschool

KW - Fatal Outcome

KW - Humans

KW - Infant

KW - Male

KW - Mitochondrial Diseases/complications

KW - Siblings

U2 - 10.1023/b:boli.0000028836.91788.30

DO - 10.1023/b:boli.0000028836.91788.30

M3 - Article

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SN - 0141-8955

VL - 27

SP - 281

EP - 283

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

Abstract

Keywords

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