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Endocrine disorders in mitochondrial disease.

Abstract：

:Endocrine dysfunction in mitochondrial disease is commonplace, but predominantly restricted to disease of the endocrine pancreas resulting in diabetes mellitus. Other endocrine manifestations occur, but are relatively rare by comparison. In mitochondrial disease, neuromuscular symptoms often dominate the clinical phenotype, but it is of paramount importance to appreciate the multi-system nature of the disease, of which endocrine dysfunction may be a part. The numerous phenotypes attributable to pathogenic mutations in both the mitochondrial (mtDNA) and nuclear DNA creates a complex and heterogeneous catalogue of disease which can be difficult to navigate for novices and experts alike. In this article we provide an overview of the endocrine disorders associated with mitochondrial disease, the way in which the underlying mitochondrial disorder influences the clinical presentation, and how these factors influence subsequent management.

journal_name

Mol Cell Endocrinol

journal_title

Molecular and cellular endocrinology

authors

Schaefer AM,Walker M,Turnbull DM,Taylor RW

doi

10.1016/j.mce.2013.06.004

subject

Has Abstract

pub_date

2013-10-15 00:00:00

pages

2-11

issue

1-2

eissn

0303-7207

issn

1872-8057

pii

S0303-7207(13)00242-6

journal_volume

379

pub_type

杂志文章,评审

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