Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.

Abstract

Distal myopathy with rimmed vacuoles (DMRV) is an early-adult-onset, distal myopathy caused by a mutation of the UDP-N-acetylglucosamine 2 epimerase/N-acetylmannosamine kinase (GNE) gene. We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N) and two known mutations (p.A524V and p.V696M). All patients shared p.V696M in one allele. Our study demonstrates the mutation spectrum of the GNE gene in Thai patients with DMRV.

• Authors: Teerin Liewluck, Theeraphong Pho-Iam, Chanin Limwongse, Wanna Thongnoppakhun, Kanokwan Boonyapisit, Natte Raksadawan, Kumiko Murayama, Yukiko K Hayashi, Ichizo Nishino, Tumtip Sangruchi
• Journal: Muscle & nerve (Muscle Nerve) Vol. 34 Issue 6 Pg. 775-8 (Dec 2006) ISSN: 0148-639X [Print] United States
• PMID: 16810679 (Publication Type: Journal Article)

Chemical References

• Multienzyme Complexes
• UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase

Topics

• Adult
• DNA Mutational Analysis
• Distal Myopathies (enzymology, genetics, pathology)
• Exons (genetics)
• Female
• Humans
• Male
• Multienzyme Complexes (genetics)
• Mutation
• Thailand
• Vacuoles (pathology)