Mitochondrial disorders

Latest Articles

Research Article
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy
Ian C. Smith, Chantal A. Pileggi, Ying Wang, et al.

Neurology Genetics January 25, 2023
Research Article
Natural History of Friedreich AtaxiaHeterogeneity of Neurologic Progression and Consequences for Clinical Trial Design
Christian Rummey, Louise A. Corben, Martin Delatycki, et al.

Neurology July 11, 2022
Clinical/Scientific Note
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
Yasuko Kuroha, Takanobu Ishiguro, Mari Tada, et al.

Neurology Genetics September 27, 2022
Research Articles
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
Ryan L. Davis, Kishore R. Kumar, Clare Puttick, et al.

Neurology May 31, 2022

Dr. Daniel Friedman and Dr. Sharon Chiang