Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency
Open Access
- 5 June 2020
- journal article
- editorial
- Published by Ovid Technologies (Wolters Kluwer Health) in Chinese Medical Journal
- Vol. 133 (11), 1358-1360
- https://doi.org/10.1097/CM9.0000000000000805
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
- Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth diseaseRinsho Shinkeigaku, 2017
- Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese familyMolecular Genetics and Metabolism Reports, 2015
- Mutations in HADHB, which encodes the β‐subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathyAmerican Journal of Medical Genetics Part A, 2014
- Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional proteinMuscle & Nerve, 2003
- Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to ?-subunit mutationsHuman Mutation, 2003