Results 61 to 70 of about 4,757 (204)

Novel heterozygous mutations in the PGAM2 gene with negative exercise testing

open access: yesMolecular Genetics and Metabolism Reports, 2018
Pathogenic variants in the PGAM2 gene are associated with glycogen storage disease type X (GSDX) and is characterized by exercise induced muscle cramping, weakness, myoglobinuria, and often tubular aggregates in skeletal muscle.
M. Sidhu   +3 more
doaj   +1 more source

Primary Aldosteronism Presenting as Dropped Head Syndrome With Hypokalemic Rhabdomyolysis: A Case Report

open access: yesCase Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Background Primary aldosteronism (PA) is a common cause of secondary hypertension and hypokalemia, but it rarely presents with neuromuscular symptoms. Although only a few cases of hypokalemia‐induced rhabdomyolysis have been reported, dropped head syndrome (DHS) due to cervical axial muscle weakness has not previously been described in the context of ...
Ya-Chen Kao   +4 more
wiley   +1 more source

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

open access: yes, 2008
Recurrent episodes of life-threatening myoglobinuria in childhood are caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation.
Hubert, Laurence   +12 more
core   +1 more source

Renal Replacement Therapy in Acute Kidney Failure due to Rhabdomyolysis

open access: yesCase Reports in Critical Care, 2012
Rhabdomyolysis is a syndrome caused by skeletal muscle cells destruction which can occur for many reasons, including prolonged immobilization. The main complication of the syndrome is the development of acute renal failure.
G. Maggi   +4 more
doaj   +1 more source

Comparison of Two Strategies of Analysis of Urinary Protein Composition for the Diagnosis and Follow‐Up of Renal Diseases

open access: yesELECTROPHORESIS, Volume 46, Issue 23, Page 1673-1680, December 2025.
ABSTRACT Proteinuria analysis is necessary to detect the early stages of kidney disease before the estimated glomerular filtration rate deteriorates and to monitor the progression of treated kidney disease. Electrophoresis is often the first orientation test, although this test is time‐consuming and its interpretation may be subjective.
Joris Guyon   +8 more
wiley   +1 more source

On myoglobinuria

open access: yes, 1968
Myoglobinuria is one of the important causes of acute renal failure, and its incidence may be increasing because of recent increase of motor vehicle accidents.
ハヂンス, ポールC.   +1 more
core  

The Role of C/EBP‐Homologous Protein in Idiopathic Inflammatory Myopathies

open access: yesJournal of Cellular and Molecular Medicine, Volume 29, Issue 21, November 2025.
ABSTRACT The Idiopathic Inflammatory Myopathies (IIMs) are a group of autoimmune disorders characterised by persistent muscle inflammation and diverse clinical manifestations. Common symptoms include muscle weakness, myalgia, and elevated serum creatine kinase levels. Recent findings highlight the relevance of muscle fibre necrosis in IIMs.
Monica Sciacco   +9 more
wiley   +1 more source

Isotretinoin‐Associated Myopathy With Normal Creatine Kinase (CK) Levels: EMG‐Based Diagnosis at Low Dose—A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Isotretinoin can cause toxic myopathy even at low doses with normal CK levels; proximal muscle weakness may be the only sign. EMG is essential for diagnosis, emphasizing the need for clinical vigilance and personalized assessment in patients with unexplained muscle symptoms on isotretinoin.
Mehran Mahyar   +4 more
wiley   +1 more source

Increased creatinine kinase levels due to MDMA use without myoglobinuria and renal failure [MDMA kullanımı sonrası miyoglobinüri ve böbrek yetmezliǧi olmadan kreatin kinaz yüksekliǧi olan bir olgu sunumu]

open access: yes, 2012
We report a 15-year-old boy admitted to the pediatric emergency unit with acute encephalopathy associated with an elevated serum creatine kinase (CK) level without myoglobinuria and renal failure, which was due to 3,4- Methylenedioxymethamphetamine (MDMA)

core   +1 more source

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: Studies with malonyl-CoA suggest absence of only CPT-II

open access: yes, 1984
A 23-year-old man suffered since adolescence from recurrent myoglobinuria. His ketone body production during fasting was normal. Muscle, liver, and platelet carnitine palmityltransferase (CPT) ranged from 4 to 27% of control by isotope exchange and ...
Angelini C.   +4 more
core   +1 more source

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