New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.

Abstract:

:Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of the lesions showed extensive small-vessel proliferation and gliosis. A distinct deficiency of complex I of mitochondrial respiratory chain was established in cultured fibroblasts, skeletal muscle, and heart muscle. Specific lack of complex I protein was demonstrated by two-dimensional gel electrophoresis.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Dionisi-Vici C,Ruitenbeek W,Fariello G,Bentlage H,Wanders RJ,Schägger H,Bosman C,Piantadosi C,Sabetta G,Bertini E

doi

10.1002/ana.410420419

subject

Has Abstract

pub_date

1997-10-01 00:00:00

pages

661-5

issue

4

eissn

0364-5134

issn

1531-8249

journal_volume

42

pub_type

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