understanding rare genetic diseases in low resource regions like Jammu and Kashmir–India
A Angural, A Spolia, A Mahajan, V Verma… - Frontiers in …, 2020 - frontiersin.org
Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a
general population compared to other diseases. Limited clinical information and a lack of …
general population compared to other diseases. Limited clinical information and a lack of …
Loss of function of CMPK2 causes mitochondria deficiency and brain calcification
M Zhao, HZ Su, YH Zeng, Y Sun, XX Guo, YL Li… - Cell Discovery, 2022 - nature.com
Brain calcification is a critical aging-associated pathology and can cause multifaceted
neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier …
neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier …
Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies
Mitochondrial ATP synthase (Complex V) catalyzes the last step of oxidative
phosphorylation and provides most of the energy (ATP) required by human cells. The …
phosphorylation and provides most of the energy (ATP) required by human cells. The …
Neuroradiological findings in a young patient bearing a new single mitochondrial gene mutation (case report)
P La Montanara, A Albergo, R Castellana… - Bulletin of the National …, 2022 - Springer
Background We present the clinical, MRI and CT findings in a case of a new mitochondrial
genome mutation (tRNA arginine gene), characterized by brain calcifications which are …
genome mutation (tRNA arginine gene), characterized by brain calcifications which are …
[PDF][PDF] MT-ATP6 基因9176T> C 变异致晚发型Leigh 综合征一家系报道并文献复习
周亚光， 瞿千千， 刘海燕， 陈萍， 崔文豪， 吕海东 - 中风与神经疾病 …, 2023 - zfysjjbzz.com
目的探讨晚发型Leigh 综合征(leighsyndrome, LS) 的临床, 头部MRI 和MT ATP6
基因变异特点. 方法详细收集一家系中2 例晚发型Leigh 综合征患者的临床资料 …
基因变异特点. 方法详细收集一家系中2 例晚发型Leigh 综合征患者的临床资料 …
Mitochondrial diseases in South Asia–A systematic review
D Hettiarachchi, K Lakmal, VHW Dissanayake - Mitochondrion, 2022 - Elsevier
Background Mitochondrial diseases are largely underdiagnosed due to their heterogeneity
in clinical presentation and genotype. This is especially true for resource-constrained …
in clinical presentation and genotype. This is especially true for resource-constrained …
Mutational analysis and mtDNA haplogroup characterization in three Serbian cases of mitochondrial encephalomyopathies and literature review
Mitochondrial encephalomyopathies (MEMP) are heterogeneous multisystem disorders
frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation …
frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation …
Beware of Leigh Syndrome Pedigrees with MT-ATP6 Mutation Whose Primary Diagnosis is Retinitis Pigmentosa
Y Li, Y Liu, Z Du, K Zhou, B Mao, L Zhang, AY Yu - 2023 - researchsquare.com
purpose: Maternally Inherited Leigh Syndrome (MILS) is a group of systemic diseases
caused by defects in mitochondrial oxidative phosphorylation (OXPHOS). We aim to …
caused by defects in mitochondrial oxidative phosphorylation (OXPHOS). We aim to …
Leigh syndrome can manifest with intracranial calcifications and bleedings.
J Finsterer, SM Newstead - Radiology Case Reports, 2022 - europepmc.org
Letter to the editor We read with interest the article by Alemao et al. about 3 patients with
Leigh syndrome, who were diagnosed with the disease upon the clinical presentation and …
Leigh syndrome, who were diagnosed with the disease upon the clinical presentation and …
[PDF][PDF] Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review …
Mitochondrial encephalomyopathies (MEMP) are heterogeneous multisystem disorders
frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation …
frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation …