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Muscle histology in fetuses at risk for Duchenne muscular dystrophy
Author(s) -
Toop James,
Emery Alan E. H.
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb01687.x
Subject(s) - fetus , duchenne muscular dystrophy , in utero , gestation , muscular dystrophy , hyaline , histology , anatomy , medicine , biology , physiology , pregnancy , pathology , genetics
Quadriceps muscle samples taken from four therapeutically aborted male fetuses (16 to 21 weeks gestation) at risk of developing Duchenne muscular dystrophy have been examined histologically. Two of the four samples were indistinguishable from normal fetal muscle of comparable gestation. A slight increase in variability of fibre size and in mean fibre diameter was found in the third fetus. The fourth fetus, of 16 weeks gestation, showed a marked increase in variability of fibre size and in mean fibre diameter. There was also a significant number of hyaline fibres present. These changes are so similar to those reported in early pre‐clinical Duchenne muscular dystrophy, that it is suggested they represent the earliest histological signs of the disorder which is already manifest in utero .