glycine has been researched along with Myopathies, Nemaline in 3 studies
Myopathies, Nemaline: A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
| Excerpt | Relevance | Reference |
|---|---|---|
| "Nemaline myopathy has been associated with mutations in five different genes, which all encode protein components of the sarcomeric thin filaments." | 1.32 | Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). ( Darin, N; Kyllerman, M; Ohlsson, M; Oldfors, A; Tajsharghi, H, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (33.33) | 18.2507 |
| 2000's | 1 (33.33) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ravenscroft, G | 1 |
| Wilmshurst, JM | 1 |
| Pillay, K | 1 |
| Sivadorai, P | 1 |
| Wallefeld, W | 1 |
| Nowak, KJ | 1 |
| Laing, NG | 1 |
| Ohlsson, M | 1 |
| Tajsharghi, H | 1 |
| Darin, N | 1 |
| Kyllerman, M | 1 |
| Oldfors, A | 1 |
| Quane, KA | 1 |
| Keating, KE | 1 |
| Healy, JM | 1 |
| Heffron, JJ | 1 |
| Lehane, M | 1 |
| Krivosic-Horber, R | 1 |
| Heytens, L | 1 |
| McCarthy, TV | 1 |
3 other studies available for glycine and Myopathies, Nemaline
| Article | Year |
|---|---|
A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
Topics: Actins; Alanine; Cell Line, Transformed; DNA Mutational Analysis; Female; Glycine; Green Fluorescent | 2011 |
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
Topics: Actins; Aspartic Acid; DNA Mutational Analysis; Exons; Female; Follow-Up Studies; Genetic Carrier Sc | 2004 |
Haplotype analysis of the BYR1 gene in malignant hyperthermia and central core disease.
Topics: Arginine; Calcium Channels; Calcium-Binding Proteins; Cysteine; DNA; Glycine; Haplotypes; Humans; Ma | 1995 |