Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia

No abstract is available for this paper.

• Publication year

  1992

• Venue

  Clinical Investigation

• Publication date

  1992-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/BF00235520PMID 1600349
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [Deletions of mitochondrial DNA in Kearns-Sayre syndrome].

  1993cited by this paper
• Brain SPECT Imaging with Tc-99m HMPAO in Ophthalmoplegia Plus

  1991cited by this paper
• Case records of the Massachusetts General Hospital.

  1990cited by this paper
• Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome

  1990cited by this paper
• [Ophthalmoplegia-plus: clinical variability, biochemical defects of the mitochondria respiratory chain and deletions of the mitochondria genome].

  1990cited by this paper
• Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

  1990cited by this paper
• Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes

  1990cited by this paper
• Endocrine involvement in mitochondrial encephalomyopathy with partial cytochrome c oxidase deficiency.

  1989cited by this paper
• Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus

  1989cited by this paper
• Changes in the hypothalamic-pituitary-gonadal axis in human immunodeficiency virus-infected homosexual men.

  1989cited by this paper
• Diabetes mellitus in Kearns-Sayre syndrome.

  1988cited by this paper
• Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

  1988cited by this paper
• Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 34-1987. A 30-year-old woman with an ocular motility disturbance, myopathy, and hypocalcemia.

  1987cited by this paper
• Case 34-1987.

  1987cited by this paper
• Testicular dysfunction in untreated Hodgkin's disease.

  1982cited by this paper
• Insulin secretion in diabetes mellitus.

  1981cited by this paper
• Kearns‐Sayre Syndrome with hypoparathyroidism

  1978cited by this paper
• Kearns‐Sayre syndrome and hypoparathyroidism

  1978cited by this paper
• The pituitary-testicular axis in men with chronic renal failure.

  1977cited by this paper
• [Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders].

  1977cited by this paper
• Oculocraniosomatic neuromuscular disease with hypoparathyroidism.

  1977cited by this paper
• Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome?

  1977cited by this paper
• Chronic progressive external ophthalmoplegia.

  1975cited by this paper
• The pituitary-gonadal axis in men with protein-calorie malnutrition.

  1975cited by this paper
• Neurodegenerative disorders and hyperaldosteronism.

  1971cited by this paper
• Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 46-1967.

  1967cited by this paper
• OBSERVATIONS ON ENDOCRINE FUNCTION IN OCULAR MYOPATHY

  1966cited by this paper
• Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases.

  1958cited by this paper

• Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature

  2025cites this paper
• Endocrine Abnormalities and Growth Pattern in Single Large‐Scale Mitochondrial DNA Deletion Syndromes

  2025cites this paper
• Endocrine Dysfunction in Primary Mitochondrial Diseases

  2025cites this paper
• Currently available therapies in mitochondrial disease.

  2023cites this paper
• Endocrine Manifestations and New Developments in Mitochondrial Disease

  2021cites this paper
• Mitochondrial dysfunction in inborn errors of metabolism

  2021cites this paper
• Transport

  2020influential citation
• Mitochondrial disease and endocrine dysfunction

  2017cites this paper
• A Pulmonary and Critical-Care Medicine Perspective

  2017cites this paper
• A case of hypopituitarism accompanying Kearns–Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review

  2017cites this paper
• Replies to the Letter to the editor

  2017cites this paper
• Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

  2017cites this paper
• Endocrine disorders in mitochondrial disease☆

  2013cites this paper
• Kearns-Sayre syndrome presenting as isolated growth failure

  2013cites this paper
• Neuromuscular and Systemic Presentations in Adults: diagnoses beyond MERRF and MELAS

  2013cites this paper
• A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

  2013cites this paper
• Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.

  2013cites this paper
• A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism

  2012cites this paper
• Endocrine manifestations related to inherited metabolic diseases in adults

  2012cites this paper
• Mitochondrial encephalomyopathies.

  2007cites this paper
• Chapter 11 Metabolic Causes of Ataxia

  2007cites this paper
• Signature of mitochondria of steroidal hormones-dependent normal and cancer cells: potential molecular targets for cancer therapy.

  2007cites this paper
• A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea.

  2004cites this paper
• Oxidative stress and cardiovascular ageing in diabetes

  2004cites this paper
• Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature

  2003cites this paper
• Chapter 2 Clinical Features of the Mitochondrial Encephalomyopathies

  2002cites this paper
• Mitochondrial disease: a pulmonary and critical-care medicine perspective.

  2001cites this paper
• Delayed Motherhood Increases the Probability of Sons to be Infertile

  2001cites this paper
• Normal pituitary function in a Japanese patient with Barth syndrome

  2001cites this paper
• Consequences on offspring of abnormal function in ageing gametes.

  2000cites this paper
• Short stature is common feature of mitochondrial gene abnormalities with diabetes.

  2000cites this paper
• Clinical manifestations and management of antiretroviral nucleoside analog-related mitochondrial toxicity.

  2000cites this paper
• Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease

  1998cites this paper
• Treatment with Cytochrome c and Evaluation of Insulin Secretion in a Patient with Kearns-Sayre Syndrome

  1998cites this paper
• Primary adrenal insufficiency in a child with a mitochondrial DNA deletion

  1998cites this paper
• Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies.

  1998cites this paper
• Noninsulin-Dependent Diabetes Mellitus as a Mitochondrial Genomic Disease

  1998cites this paper
• mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl.

  1998cites this paper
• Hypoparathyroidism and Deafness Associated with Pleioplasmic Large Scale Rearrangements of the Mitochondrial DNA: A Clinical and Molecular Genetic Study of Four Children with Kearns-Sayre Syndrome

  1997cites this paper
• Non-insulin-dependent diabetes mellitus in childhood and adolescence.

  1997cites this paper
• Oxidative phosphorylation defect associated with primary adrenal insufficiency.

  1996cites this paper
• Gonadal dysfunction in mitochondrial encephalomyopathies.

  1995cites this paper
• Mitochondrial diabetes mellitus: a review.

  1995cites this paper
• [MELAS syndrome. Clinical aspects, MRI, biochemistry and molecular genetics].

  1994cites this paper
• Microcompartmentation of energy metabolism at the outer mitochondrial membrane: Role in diabetes mellitus and other diseases

  1994cites this paper