Novel compound heterozygous mutations of LAMA2-limb-girdle muscular dystrophy: A case report and literature review

Duo-Zi Wang; Bing-Hu Li; Qiong Ma; Zhou Yu; Kai Chen; Ying He; Song Tan

doi:10.3389/fneur.2023.1078151

Novel compound heterozygous mutations of LAMA2-limb-girdle muscular dystrophy: A case report and literature review

Front Neurol. 2023 Feb 13:14:1078151. doi: 10.3389/fneur.2023.1078151. eCollection 2023.

Authors

Duo-Zi Wang¹, Bing-Hu Li¹, Qiong Ma², Zhou Yu³, Kai Chen¹, Ying He³, Song Tan^{1

4

5}

Affiliations

¹ Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
² Department of Neurology, The First People's Hospital of Liangshan in Yi Autonomous Prefecture, Xichang, China.
³ Department of Psychosomatic Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
⁴ Sichuan Provincial Key Laboratory for Human Disease Gene Study, Chengdu, China.
⁵ Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China.

Abstract

The laminin α2 (LAMA2) gene pathogenic variants can lead to limb-girdle muscular dystrophy (known as LGMDR23), which is rarely reported and characterized by proximal weakness in the limbs. We present the case of a 52-year-old woman who gradually developed weakness in both lower extremities since the age of 32 years. Magnetic resonance imaging (MRI) brain showed symmetrical sphenoid wings-like white matter demyelination in bilateral lateral ventricles. Electromyography showed quadriceps muscle damage on the bilateral lower extremity. Next-generation sequencing (NGS) found two loci variations in the LAMA2 gene, i.e., c.2749 + 2dup and c.8689C>T. This case highlights the importance of considering LGMDR23 in patients presenting with weakness and white matter demyelination on MRI brain and further expands the gene variants spectrum of LGMDR23.

Keywords: LAMA2; LGMDR23; MDC1A; case report; limb-girdle muscular dystrophy; merosin.

Publication types

Case Reports