Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review

Authors

  • LiuQing Sun Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China
  • DingGuo Shen Department of Neurology, Xi’an Gaoxin Hospital, Xi’an, Shanxi Province, China
  • Ting Xiong Department of Neurology, Xi’an Gaoxin Hospital, Xi’an, Shanxi Province, China
  • Zhibin Zhou Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China
  • Xianghui Lu Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China
  • Fang Cui Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China

DOI:

https://doi.org/10.17305/bjbms.2019.3992

Keywords:

Dystroglycanopathy, limb-girdle muscular dystrophy (LGMD), guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B gene, GMPPB mutations, heterozygous mutations, high throughput gene panel sequencing

Abstract

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a 29-year-old Chinese male presenting with limb-girdle muscular dystrophy (LGMD) who was found to have two heterozygous GMPPB mutations. The patient had a progressive limb weakness for 19 years. His parents and elder brother were healthy. On examination he had a waddling gait and absent tendon reflexes in all four limbs. Electromyography showed myogenic damage. Muscle magnetic resonance imaging (MRI) showed fatty degeneration in the bilateral medial thigh muscles. High-throughput gene panel sequencing revealed that the patient carried compound heterozygous mutations in the GMPPB gene, c.553C>T (p.R185C, maternal inheritance) and c.346C>T (p.P116S, paternal inheritance). This case provides additional information regarding the phenotypic spectrum of GMPPB mutations in the Chinese population.

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Author Biographies

  • LiuQing Sun, Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China
    Department of Neurology
  • DingGuo Shen, Department of Neurology, Xi’an Gaoxin Hospital, Xi’an, Shanxi Province, China

    Department of Neurology

  • Ting Xiong, Department of Neurology, Xi’an Gaoxin Hospital, Xi’an, Shanxi Province, China

    Department of Neurology

  • Zhibin Zhou, Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China
    Department of Neurology
  • Xianghui Lu, Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China
    Department of Neurology
  • Fang Cui, Department of Neurology, Hainan Branch of Chinese PLA General Hospital, Sanya, Hainan Province, China
    Department of Neurology
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review

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Published

01-05-2020

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Section

Case Reports

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How to Cite

1.
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. Biomol Biomed [Internet]. 2020 May 1 [cited 2024 Apr. 13];20(2):275-80. Available from: https://www.bjbms.org/ojs/index.php/bjbms/article/view/3992