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Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood
Author(s) -
RoeleveldVersteegh A. B. C.,
Braun K. P. J.,
Smeitink J. A. M.,
Dorland L.,
Koning T. J.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000028836.91788.30
Subject(s) - mitochondrial respiratory chain , respiratory chain , medicine , respiratory system , differential diagnosis , mitochondrial disease , disease , pediatrics , paralysis , pathology , mitochondrion , mitochondrial dna , biology , surgery , genetics , gene
Summary: 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.