Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.
Journal
Bosnian journal of basic medical sciences
ISSN: 1840-4812
Titre abrégé: Bosn J Basic Med Sci
Pays: Bosnia and Herzegovina
ID NLM: 101200947
Informations de publication
Date de publication:
01 May 2020
01 May 2020
Historique:
received:
20
11
2018
accepted:
19
12
2018
pubmed:
28
1
2019
medline:
20
3
2021
entrez:
28
1
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 30684953
doi: 10.17305/bjbms.2019.3992
pmc: PMC7202191
doi:
Substances chimiques
Nucleotidyltransferases
EC 2.7.7.-
mannose 1-phosphate guanylyltransferase
EC 2.7.7.13
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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