Results 101 to 110 of about 182,656 (351)
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
Glucocorticoid-induced myopathy: Pathophysiology, diagnosis, and treatment
Indian Journal of Endocrinology and Metabolism, 2013 Glucocorticoid-induced myopathy is the most common type of drug-induced myopathy. Nearly 60% of patients with Cushing′s syndrome have muscle weakness.
Anu Gupta, Yashdeep Gupta
doaj +1 more source
Progression of myopathology in Kearns-Sayre syndrome [PDF]
, 1992 We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
B. Meurers +11 more
core +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Evidence-based treatment of metabolic myopathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective To evaluate the current treatments and possible adverse reactions of metabolic myopathy, and to develop the best solution for evidence-based treatment.
Yan LIN, Wen-wu ZHANG, Ling LIU
doaj
p97 Disease Mutations Modulate Nucleotide-Induced Conformation to Alter Protein-Protein Interactions. [PDF]
, 2016 The AAA+ ATPase p97/VCP adopts at least three conformations that depend on the binding of ADP and ATP and alter the orientation of the N-terminal protein-protein interaction (PPI) domain into up and down conformations.
Arkin, Michelle +2 more
core
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. [PDF]
, 2017 Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are age-related neurodegenerative disorders with shared genetic etiologies and overlapping clinical and pathological features. Here we studied a novel ALS/FTD family and identified the
Annu, Kavya +41 more
core +2 more sources
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source