Carrier detection in muscular dystrophy. 1992

S Venkataraman, and R M Dhamija

UI MeSH Term Description Entries
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D005260 Female Females
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D012508 Sarcolemma The excitable plasma membrane of a muscle cell. (Glick, Glossary of Biochemistry and Molecular Biology, 1990) Sarcolemmas
D016189 Dystrophin A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

Related Publications

S Venkataraman, and R M Dhamija
April 1979, Lancet (London, England),
S Venkataraman, and R M Dhamija
May 1979, Lancet (London, England),
S Venkataraman, and R M Dhamija
August 1979, Lancet (London, England),
S Venkataraman, and R M Dhamija
October 1982, Lancet (London, England),
S Venkataraman, and R M Dhamija
January 1976, The New England journal of medicine,
S Venkataraman, and R M Dhamija
June 1980, Journal of medical genetics,
S Venkataraman, and R M Dhamija
September 1971, California medicine,
S Venkataraman, and R M Dhamija
October 1969, Journal de genetique humaine,
S Venkataraman, and R M Dhamija
December 1965, Journal de genetique humaine,
S Venkataraman, and R M Dhamija
June 1984, Lancet (London, England),
Copied contents to your clipboard!