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; Song Tan; Song Tan

doi:10.3389/fneur.2023.1078151

Frontiers in Neurology (Feb 2023)

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,
Song Tan,
Song Tan

Affiliations

Duo-Zi Wang: Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China
Bing-Hu Li: Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China
Qiong Ma: Department of Neurology, The First People's Hospital of Liangshan in Yi Autonomous Prefecture, Xichang, China
Zhou Yu: Department of Psychosomatic Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China
Kai Chen: Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China
Ying He: Department of Psychosomatic Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China
Song Tan: Department of Neurology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China
Song Tan: Sichuan Provincial Key Laboratory for Human Disease Gene Study, Chengdu, China
Song Tan: Chinese Academy of Sciences Sichuan Translational Medicine Research Hospital, Chengdu, Sichuan, China

DOI: https://doi.org/10.3389/fneur.2023.1078151
Journal volume & issue: Vol. 14

Abstract

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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.

Published in Frontiers in Neurology

ISSN: 1664-2295 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry: Neurology. Diseases of the nervous system
Website: https://www.frontiersin.org/journals/neurology/

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