Results 131 to 140 of about 26,737 (207)

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

Effects of exercise training on skeletal muscle function in patients with mitochondrial myopathy: a systematic review. [PDF]

Front Sports Act Living
Wan Q, Ding Y, Liu W, Yang K.
europepmc   +1 more source

Depletion of plasma thymidine results in growth retardation and mitochondrial myopathy in mice overexpressing human thymidine phosphorylase. [PDF]

J Biol Chem, 2023
Harada N, Nagasaki H, Yamamoto H, Matsubara K, Suzuki T, Gomori A, Yokogawa T, Matsuo K, Miyadera K.   +8 more
europepmc   +1 more source

Mitochondrial Myopathy, Lactic Acidosis, and Stroke-Like Episodes Combined with Diabetes: A Case Report. [PDF]

Endocr Metab Immune Disord Drug Targets
Zhou S, Tian Y, Liu F, Wu E, Feng X.
europepmc   +1 more source

From Mitochondrial Myopathy to <i>SLC18A3</i>-Related Congenital Presynaptic Myasthenic Syndrome: A Case Report. [PDF]

Case Rep Neurol
Boxum AG, Bos DK, Drost G, Elting JW, de Koning TJ, van Ockenburg SL, Koens LH.   +6 more
europepmc   +1 more source

OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy. [PDF]

J Clin Invest, 2022
Shammas MK, Huang X, Wu BP, Fessler E, Song IY, Randolph NP, Li Y, Bleck CK, Springer DA, Fratter C, Barbosa IA, Powers AF, Quirós PM, Lopez-Otin C, Jae LT, Poulton J, Narendra DP.   +16 more
europepmc   +1 more source

Progress and perspectives in primary mitochondrial myopathy: Highlights from the 2025 mitochondrial medicine masterclass with a focus on TK2 deficiency. [PDF]

Ther Adv Rare Dis
Larson A, Goettemoeller J, Goettemoeller K, Goettemoeller L, Goldstein A, Huggan N, Karaa A, Leahey M, Scaglia F, Yeske P, Zolkipli-Cunningham Z, Hirano M.   +11 more
europepmc   +1 more source

A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child. [PDF]

Saudi J Med Med Sci
Abbas AA, Monagel DA, Althubaiti SJ.
europepmc   +1 more source

A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2023
Liu H, Gao M, Sun Q, Chen S, Luo Y, Yang H, Li Q, Li J, Yang G.   +8 more
europepmc   +1 more source

Mitochondrial myopathy revealed postoperative acute respiratory failure: A case report. [PDF]

World J Clin Cases
Park SY, Hong SM, Lee HY, Kim MY, Lee HK, Han JY, Cho HJ, Oh SI, Lee H.   +8 more
europepmc   +1 more source