carnitine 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 is clinically and genetically heterogenous." | 1.31 | Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report. ( Buxmann, H; Laing, NG; Loewenich, V; Nowak, KJ; Schlösser, R; Schlote, W; Sewell, A, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (33.33) | 18.2507 |
| 2000's | 2 (66.67) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Skyllouriotis, ML | 1 |
| Marx, M | 1 |
| Skyllouriotis, P | 1 |
| Bittner, R | 1 |
| Wimmer, M | 1 |
| Miró, O | 1 |
| Laguno, M | 1 |
| Masanés, F | 1 |
| Perea, M | 1 |
| Urbano-Márquez, A | 1 |
| Grau, JM | 1 |
| Buxmann, H | 1 |
| Schlösser, R | 1 |
| Schlote, W | 1 |
| Sewell, A | 1 |
| Nowak, KJ | 1 |
| Laing, NG | 1 |
| Loewenich, V | 1 |
3 other studies available for carnitine and Myopathies, Nemaline
| Article | Year |
|---|---|
Nemaline myopathy and cardiomyopathy.
Topics: Acyl-CoA Dehydrogenase; Biopsy; Cardiomyopathy, Hypertrophic; Carnitine; Child, Preschool; Diet, Fat | 1999 |
Congenital and metabolic myopathies of childhood or adult onset.
Topics: Adolescent; Adult; Age of Onset; Aged; alpha-Glucosidases; Biopsy; Carnitine; Carnitine O-Palmitoylt | 2000 |
Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
Topics: Bacterial Proteins; Biopsy; Carnitine; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Mem | 2001 |