Work

A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start‐Loss Variant in LYRM7‐Associated Mitochondrial Complex III Deficiency

Year: 2025

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.64105

Authors: Noel Deep Luke, Aditya Vijayakrishnan Nair, Ajith Sivadasan, Karthik Muthusamy, Maya Mary Thomas, Sangeetha Yoganathan, Rekha Aaron, Anitha Jasper, Pavithra Mannam, Roshan Daniel, Sumita Danda

Institutions: Christian Medical College, Vellore, Mayo Clinic in Florida, Kerala Institute of Medical Sciences

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4410037932

FWCI: 0.261

Cites: 26

Cited by: 1

Related to: 10