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DYSTROPHIN [2 records]
Record 1 - internal organization data 2002-04-26
Record 1, English
Record 1, Subject field(s)
- Biochemistry
Record 1, Main entry term, English
- dystrophin
1, record 1, English, dystrophin
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
Protein (400 kD) from skeletal muscle that is missing in Duchenne muscular dystrophy. 1, record 1, English, - dystrophin
Record number: 1, Textual support number: 1 OBS
Its exact role is not yet clear though it seems to be associated with the cytoplasmic face of the sarcolemma and T-tubules and may form part of the membrane cytoskeleton. There are sequence homologies with non-muscle [alpha]-actinin and with spectrin. 1, record 1, English, - dystrophin
Record 1, French
Record 1, Domaine(s)
- Biochimie
Record 1, Main entry term, French
- dystrophine
1, record 1, French, dystrophine
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Une autre approche consiste à prélever des cellules autologues déficientes en un gène particulier, comme c'est le cas dans la dystrophie de Duchenne, dans laquelle les cellules musculaires du patient sont déficientes en dystrophine, et à leur transférer in vitro ce gène avant de les réimplanter dans les muscles du patient. 1, record 1, French, - dystrophine
Record 1, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2001-03-01
Record 2, English
Record 2, Subject field(s)
- Nervous System
Record 2, Main entry term, English
- Becker muscular dystrophy
1, record 2, English, Becker%20muscular%20dystrophy
correct
Record 2, Abbreviations, English
- BMD 1, record 2, English, BMD
correct
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 CONT
Becker dystrophy is like a less severe form of Duchenne dystrophy. Recently it was shown that DMD [Duchenne's muscular dystrophy] and BMD are due to defects of the same gene. The normal function of the gene is to enable muscle fibers to make a particular chemical substance, a protein called dystrophin. Muscle fibres in people affected with DMD are extremely deficient in dystrophin, in BMD the deficiency is less severe. 1, record 2, English, - Becker%20muscular%20dystrophy
Record 2, French
Record 2, Domaine(s)
- Système nerveux
Record 2, Main entry term, French
- dystrophie de Becker
1, record 2, French, dystrophie%20de%20Becker
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 CONT
La dystrophie de Becker [...] est considérée comme une variante bénigne de la myopathie de Duchenne. L'anomalie génique se situe sur le même locus C bras court du chromosome X (X p21) avec une transmission récessive liée à l'X. Sur le plan structural il n'existe pas, comme dans la dystrophie de Duchenne, un déficit complet en dystrophine; la dystrophine est présente mais en quantité insuffisante ou de structure anormale. 1, record 2, French, - dystrophie%20de%20Becker
Record 2, Spanish
Record 2, Textual support, Spanish
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