Congenital Muscular Dystrophy / Rigid Spine Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-14-2-7

Congenital Muscular Dystrophy / Rigid Spine Syndrome

Pediatric Neurology Briefs

Volume 14 (2000): Issue 2

By: J Gordon Millichap

Open Access

|Feb 2000

Abstract

A detailed phenotypic description of 4 siblings (3 boys and 1 girl) with congenital muscular dystrophy and rigid spine syndrome is reported from the University of Utah, Salt Lake City, UT.

References

Flanigan KM Kerr L Bromberg MB Leonard C Tsuruda J Zhang P Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study Ann Neurol 2000 Feb 47 2 152 161 10.1002/1531-8249(200002)47:2<;152::AID-ANA4>3.0.CO;2-U 10665485
Open DOI Search in Google Scholar Back to article
Dubowitz V Congenital muscular dystrophy: an expanding clinical syndrome Ann Neurol 2000 Feb 47 2 143 144 10.1002/1531-8249(200002)47:2<;143::AID-ANA2>3.0.CO;2-Y 10665483
Open DOI Search in Google Scholar Back to article
Batten Frederick E Three cases of myopathy, infantile type Brain 1903 27 147 148
Search in Google Scholar Back to article
Banker BQ Victor M Adams RD Arthrogryposis multiplex due to congenital muscular dystrophy Brain 1957 Sep 80 3 319 334 10.1093/brain/80.3.319 13471804
Open DOI Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-14-2-7 | Journal eISSN: 2166-6482

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Language: English

Page range: 13 - 14

Published on: Feb 1, 2000

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Congenital Muscular Dystrophy/Rigid Spine Syndrome,

Dystrophin-Glycoprotein,

Widespread Muscle Abnormalities

© 2000 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 14 (2000): Issue 2