Work

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

Year: 2011

Type: article

Study design: Case Report

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2011.04.018

Authors: Christian P. Schaaf, Maria Blazo, Richard Alan Lewis, Ross E. Tonini, Hidehiro Takei, Jing Wang, Lee-Jun Wong, Fernando Scaglia

Institutions: Baylor College of Medicine, Baylor Scott & White Medical Center - Temple, Scott & White Memorial Hospital, Houston Methodist

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

Funder: Research to Prevent Blindness

OpenAlex ID: W2069779268

FWCI: 1.741

Cites: 23

Cited by: 88

Related to: 10