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Abstract
In a follow-up study of 259 floppy infants of undetermined cause in my laboratory,
11 patients were later diagnosed as having the Prader-Willi syndrome (PWS). To clarify
the pathogenesis of muscle hypotonia in PWS, I examined muscle biopsies by histochemical
and morphometric methods and the results were compared with those obtained from floppy
infants with only mental retardation but with no other features. The histochemical
abnormalities of PWS included (i) fiber size variation of both type 1 and 2 fibers,
(ii) type 2 fiber atrophy, (iii) increased numbers of type 2C fibers, and (iv) decreased
numbers of type 2B fiber. Although muscle hypotonia in PWS has been thought to be
due to central nervous system abnormality, my findings suggest that primary muscle
pathology, including muscle fiber immaturity and abnormal muscle fiber type distribution,
at least in part, plays a role in muscle hypotonia and weakness.
Keywords
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Article info
Publication history
Accepted:
February 4,
1994
Received:
March 25,
1993
Identification
Copyright
© 1994 Elsevier Science B.V. All rights reserved. Published by Elsevier Inc.
