Results 131 to 140 of about 419,034 (232)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Fatty Acid Oxidation Disorders Detected by Newborn Screening: Clinical, Biochemical and Genetic Spectrum in a Single‐Center Cohort

JIMD Reports, Volume 67, Issue 6, November 2026.
ABSTRACT Newborn screening (NBS) has significantly improved early detection and survival in fatty acid oxidation disorders (FAODs). However, the expanding phenotypic spectrum challenges prognostic stratification, and long‐term morbidity remains incompletely characterized.
Elena Martín‐Hernández, Delia Barrio‐Carreras, María Martín‐Cazaña, Luis Miguel García‐Cárdaba, Carmen Martín‐Fernández, Patricia Pérez‐Mohand, Teresa Hernández Chamorro, Berta Zamora Crespo, Pedro Ruiz‐Sala, Patricia Alcaide Alonso, Pilar Quijada‐Fraile   +10 more
wiley   +1 more source

Mitochondrial myopathy presenting as acute respiratory failure: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
WANG Hui, YU Meng, LÜ He, ZHANG Wei, YUAN Yun, WANG Zhao‑xia   +5 more
doaj   +1 more source

Diabetic Polyneuropathy Patients Exhibit an Altered Skeletal Muscle Proteome Phenotype

PROTEOMICS – Clinical Applications, Volume 20, Issue 6, November 2026.
ABSTRACT Purpose Diabetic polyneuropathy (DPN) is a debilitating complication of diabetes that affects motor nerves and may impair skeletal muscle health. This study investigated skeletal muscle proteomic alterations associated with DPN compared with type 2 diabetes without DPN (T2D) and healthy controls (CON).
Frederik Forsberg Thybo, Karolina Snopek Khan, Jesper Emil Jakobsgaard, Henning Andersen, Kristian Vissing, Johan Palmfeldt   +5 more
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Surgical treatment of ptosis of the eyelid in patients suffering from mitochondrial myopathies

, 1990
The authors briefly describe the commonest forms of mitochondrial myopathies particularly those associated with disorders of ocular motility. They report their series of four patients suffering from ptosis of the eyelid caused by mitochondrial ...
GRECO M, SCOPPETTA C., RUBINO C, SCUDERI N, D'ANDREA, Francesco   +4 more
core  

Advances in primary mitochondrial myopathies. [PDF]

Curr Opin Neurol, 2019
de Barcelos IP, Emmanuele V, Hirano M.
europepmc   +1 more source

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies. [PDF]

J Cachexia Sarcopenia Muscle
Bermejo-Moriñigo A, Martín-Jiménez P, González-Méndez V, Bermejo-Guerrero L, Ochoa LE, Martín-Arriscado C, Alcalá-Galiano A, Casado-Pérez C, Navarro-Riquelme M, Garrido-Moraga R, González Quintana A, Blázquez A, Domínguez-González C.   +12 more
europepmc   +1 more source

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency. [PDF]

J Inherit Metab Dis
Martín-Jimenez P, Bermejo-Guerrero L, Ochoa LE, Navarro-Riquelme M, Garrido-Moraga R, Hernández-Laín A, Hernández-Voth A, González Quintana A, Bermejo-Moriñigo A, González-Méndez V, Martín-Arriscado Arroba C, Smirnov D, Konstantinovskiy N, Arenas J, Martin MÁ, Blázquez A, Domínguez-González C.   +16 more
europepmc   +1 more source