Page last updated: 2024-10-18

glycine and Muscular Dystrophy, Oculopharyngeal

glycine has been researched along with Muscular Dystrophy, Oculopharyngeal in 2 studies

Muscular Dystrophy, Oculopharyngeal: An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.

Research Excerpts

ExcerptRelevanceReference
"Oculopharyngeal muscular dystrophy is a neuromuscular disease usually presenting in the 5th or 6th decades of life with a dominant inheritance pattern."1.37Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation. ( Hildebrand, GD; Hilton-Jones, D; Mansfield, D; Marks, S; Mechan, D; Ramsay, J; Robinson, DO, 2011)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's1 (50.00)2.80

Authors

AuthorsStudies
Takahashi, Y1
Morimoto, N1
Nada, T1
Morimoto, M1
Eura, N1
Minami, N1
Nishino, I1
Robinson, DO1
Hilton-Jones, D1
Mansfield, D1
Hildebrand, GD1
Marks, S1
Mechan, D1
Ramsay, J1

Other Studies

2 other studies available for glycine and Muscular Dystrophy, Oculopharyngeal

ArticleYear
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.
    Journal of neuromuscular diseases, 2023, Volume: 10, Issue:3

    Topics: Aged; Alanine; Glycine; Humans; Male; Muscular Dystrophy, Oculopharyngeal; Point Mutation; Poly(A)-B

2023
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.
    Neuromuscular disorders : NMD, 2011, Volume: 21, Issue:11

    Topics: Aged; Alanine; DNA Mutational Analysis; Female; Glycine; Humans; Male; Muscle, Skeletal; Muscular Dy

2011