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Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian Natives.

https://arctichealth.org/en/permalink/ahliterature217615
Source
Can J Neurol Sci. 1994 Aug;21(3):203-12
Publication Type
Article
Date
Aug-1994
Author
A G Lacson
S S Seshia
H B Sarnat
J. Anderson
W R DeGroot
A. Chudley
C. Adams
H Z Darwish
R B Lowry
S. Kuhn
Author Affiliation
Department of Pathology, University of Manitoba.
Source
Can J Neurol Sci. 1994 Aug;21(3):203-12
Date
Aug-1994
Language
English
Publication Type
Article
Keywords
Canada
Electromyography
Electrophoresis, Polyacrylamide Gel
Fatal Outcome
Female
Genes, Recessive
Humans
Indians, North American
Infant
Infant, Newborn
Male
Microscopy, Electron
Muscle Proteins - analysis - metabolism
Muscle, Skeletal - metabolism - pathology
Muscular Dystrophies - ethnology - genetics - mortality
Nerve Tissue Proteins - metabolism
Pedigree
Abstract
We describe eleven mid-western Canadian aboriginal infants with a unique, progressive muscle disorder. All except one had muscle biopsy and/or autopsy. The infants were normal newborns who rapidly developed rigidity of all skeletal muscles, with early, respiratory insufficiency. Death occurred before 18 months of age. Electromyography showed increased insertion activity and profuse fibrillation potentials; motor unit potentials and interference pattern are normal until late in the course. Pathologic features include progressive, granular to powdery Z-band transformation, myofibrillar loss, and muscle regeneration. SDS-gel electrophoresis of one muscle sample revealed increased 54kDa and reduced 80kDa protein fractions. This disease differs from other conditions with Z-band alterations because of continuous muscle activity and relentless clinical progression. The clinical features, elevated serum creatine kinase, electromyographic and muscle biopsy findings suggest a dystrophic process. The recognition of this condition as an autosomal recessive disorder allows appropriate genetic counselling.
PubMed ID
8000975 View in PubMed
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