Linked Life Data

945870

Source:http://linkedlifedata.com/resource/pubmed/id/945870

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
1976-9-25
pubmed:abstractText
Six members of a family had a neurologic disease with autosomal dominant transmission and adolescent onset of progressive wasting of predominantly distal axial muscles and muscles innervated by cranial nerves V, VII, X, and XII, leading to severe morbidity in adulthood. Muscle biopsy of the propositus revealed "ragged-red" fibers, while electromyography and autopsy material were consisted with a neurogenic disease. The case seemed unique to any clinicogenetic nosology, because it was associated with a cardiac conduction defect, a mitochondrial abnormality in skeletal muscle, and a course, distribution, and degree of weakness that included features of both chronic spinal muscular atrophy and amyotrophic lateral sclerosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0028-3878
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
754-63
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1976
pubmed:articleTitle
Familial progressive bulbar and spinal muscular atrophy. Juvenile onset and late morbidity with ragged-red fibers.
pubmed:publicationType
Journal Article, Case Reports