Disease: Cardiomyopathy diabetes deafness
- A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report
- A Patient with Mitochondrial Disease on Dialysis with Long-term Follow-up of Cardiomyopathy: An Autopsy Case Report
- Alstrom syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
- Association Between Left Ventricular Scar and Ventricular Ectopy in People Living With and Without HIV
- Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in <em>ALMS1</em>, Including a <em>de novo</em> Variation
- Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report
- Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report
- Chronological change of left ventricular global longitudinal strain in patients with maternally inherited diabetes and deafness: A case series
- Co-Occurrence of Nephronophthisis Type 1 and Alström Syndrome: A Case Report
- Comparison of electron microscopic findings and clinical presentation in three patients with mitochondrial cardiomyopathy caused by the mitochondrial DNA mutation m.3243A > G
- Comparison of electron microscopic findings and clinical presentation in three patients with mitochondrial cardiomyopathy caused by the mitochondrial DNA mutation m.3243A > G
- Consensus clinical management guidelines for Alström syndrome
- Diagnosis, treatment and genetic analysis of a case of Alstrom syndrome caused by compoud heterozygous mutation of <em>ALMS1</em>
- Effective treatment of choreaballism due to an <em>MT-CYB</em> variant with haloperidol, tetrabenazine, and antioxidants
- Mitochondrial Strokes: Diagnostic Challenges and Chameleons
- Proteomic Analysis of m.8296A>G Variation in the Mitochondrial <em>tRNA</em> <sup>Lys</sup> Gene
- Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders
- Retinoschisis associated with Kearns-Sayre syndrome
- Successful transcatheter mitral valve repair for functional mitral regurgitation in a patient with mitochondrial cardiomyopathy: a case report
- The heart in m.3243A>G carriers