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.
Excerpt | Relevance | Reference |
---|---|---|
"Oculopharyngeal muscular dystrophy is a neuromuscular disease usually presenting in the 5th or 6th decades of life with a dominant inheritance pattern." | 1.37 | Two 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) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 1 (50.00) | 24.3611 |
2020's | 1 (50.00) | 2.80 |
Authors | Studies |
---|---|
Takahashi, Y | 1 |
Morimoto, N | 1 |
Nada, T | 1 |
Morimoto, M | 1 |
Eura, N | 1 |
Minami, N | 1 |
Nishino, I | 1 |
Robinson, DO | 1 |
Hilton-Jones, D | 1 |
Mansfield, D | 1 |
Hildebrand, GD | 1 |
Marks, S | 1 |
Mechan, D | 1 |
Ramsay, J | 1 |
2 other studies available for glycine and Muscular Dystrophy, Oculopharyngeal
Article | Year |
---|---|
A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.
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.
Topics: Aged; Alanine; DNA Mutational Analysis; Female; Glycine; Humans; Male; Muscle, Skeletal; Muscular Dy | 2011 |