AI Article Synopsis
- A rare case of GMPPB gene mutations was reported in a 29-year-old Chinese male with limb-girdle muscular dystrophy (LGMD), who had experienced progressive weakness for 19 years.
- The patient displayed symptoms such as a waddling gait, absent tendon reflexes, and myogenic damage, confirmed through electromyography and MRI showing fatty degeneration in thigh muscles.
- Genetic analysis revealed compound heterozygous mutations in the GMPPB gene, contributing new insights into the effects of these mutations within the Chinese population.
Article 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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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202191 | PMC |
| http://dx.doi.org/10.17305/bjbms.2019.3992 | DOI Listing |
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