In:
Molecular Case Studies, Cold Spring Harbor Laboratory, Vol. 3, No. 2 ( 2017-03), p. a001560-
Abstract:
Apoptosis-inducing factor mitochondrion-associated 1 (AIFM1), encoded by the gene AIFM1 , has roles in electron transport, apoptosis, ferredoxin metabolism, reactive oxygen species generation, and immune system regulation. Here we describe a patient with a novel AIFM1 variant presenting unusually early in life with mitochondrial disease, rapid deterioration, and death. Autopsy, at the age of 4 mo, revealed features of mitochondrial encephalopathy, myopathy, and involvement of peripheral nerves with axonal degeneration. In addition, there was microvesicular steatosis in the liver, thymic noninvolution, follicular bronchiolitis, and pulmonary arterial medial hypertrophy. This report adds to the clinical and pathological spectrum of disease related to AIFM1 mutations and provides insights into the role of AIFM1 in cellular function.
Type of Medium:
Online Resource
ISSN:
2373-2865
,
2373-2873
Language:
English
Publisher:
Cold Spring Harbor Laboratory
Publication Date:
2017
detail.hit.zdb_id:
2835759-0
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