Lysosomal glycogen storage disease without acid maltase deficiency

J E Riggs; S S Schochet Jr; L Gutmann; S Shanske; W A Neal; S DiMauro

doi:10.1212/WNL.33.7.873

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Lysosomal glycogen storage disease without acid maltase deficiency

Journal article

Peer reviewed

Lysosomal glycogen storage disease without acid maltase deficiency

J E Riggs, S S Schochet Jr, L Gutmann, S Shanske, W A Neal and S DiMauro

Neurology, Vol.33(7), pp.873-877

07/1983

DOI: 10.1212/WNL.33.7.873

PMID: 6408499

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Abstract

We studied two brothers with lysosomal glycogen storage disease without acid maltase deficiency in skeletal muscle. Although no specific biochemical defect was identified, a characteristic clinical picture emerged from evaluation of these siblings and two other previously reported patients. The syndrome is manifested by proximal muscle weakness, hypertrophic cardiomyopathy, probable intellectual impairment, and possible liver involvement.

Glucosidases - deficiency

Glycogen Storage Disease - pathology

Liver - pathology

Glycogen Storage Disease - genetics

Humans

Adolescent

Brain - pathology

Male

Child

Muscles - pathology

Glucan 1,4-alpha-Glucosidase - deficiency

Details

Title: Subtitle: Lysosomal glycogen storage disease without acid maltase deficiency
Creators: J E Riggs
S S Schochet Jr
L Gutmann
S Shanske
W A Neal
S DiMauro
Resource Type: Journal article
Publication Details: Neurology, Vol.33(7), pp.873-877
Publisher: United States
DOI: 10.1212/WNL.33.7.873
PMID: 6408499
ISSN: 0028-3878
eISSN: 1526-632X
Language: English
Date published: 07/1983
Academic Unit: Neurology
Record Identifier: 9984020643802771

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