Work

Limb-girdle muscular dystrophy D3: The first North American family and review of the literature

Year: 2025

Type: article

Abstract: Limb-girdle muscular dystrophy type D3 is a rare, late-onset muscular dystrophy that has, to date, only been identified in European, South American, and Asian populations. Here we present the index patient of the first North American family with LGMDD3. We review this disorder and highlight both common and uncommon clinical features. We also discuss new insights into disease pathogenesis.

Source: Journal of the Neurological Sciences

DOI: 10.1016/j.jns.2025.123670

Authors: Adam S. Deardorff, Michael C. Isfort

Institutions: Wright State University, The Ohio State University Wexner Medical Center, The Ohio State University

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,640