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serine and Myopathies, Nemaline

serine has been researched along with Myopathies, Nemaline in 1 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

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)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Quane, KA1
Keating, KE1
Healy, JM1
Manning, BM1
Krivosic-Horber, R1
Krivosic, I1
Monnier, N1
Lunardi, J1
McCarthy, TV1

Other Studies

1 other study available for serine and Myopathies, Nemaline

ArticleYear
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
    Genomics, 1994, Sep-01, Volume: 23, Issue:1

    Topics: Amino Acid Sequence; Base Sequence; Calcium Channels; Cardiomyopathy, Hypertrophic; Chromosomes, Hum

1994