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

A LGMD2T case with novel GMPPB gene mutations

  • 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
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
Published
2019-01-16
How to Cite
1.
Sun L, Shen D, Xiong T, Zhou Z, Lu X, Cui F. Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. Bosn J of Basic Med Sci [Internet]. 2019Jan.16 [cited 2019Nov.19];00. Available from: https://bjbms.org/ojs/index.php/bjbms/article/view/3992
Section
Case reports