Document Detail


Molecular genetics and clinical aspects of inherited disorders of nerve and muscle.
MedLine Citation:
PMID:  1392132     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Rapid progress has been made in elucidating the molecular genetic basis of several neuromuscular disorders in the past year. Candidate genes have been identified or analysed in hereditary motor and sensory neuropathy (HMSN) type I, X-linked bulbospinal neuronopathy and non-dystrophic myotonic disorders, and further mutations causing amyloidosis have been identified. A familial amyotrophic lateral sclerosis (ALS) locus maps to chromosome 21 in some families, and the chronic childhood spinal muscular atrophy (SMA), facioscapulohumeral muscular dystrophy (FSHD) and malignant hyperthermia loci have been localized more precisely.
Authors:
A E Harding
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current opinion in neurology and neurosurgery     Volume:  5     ISSN:  0951-7383     ISO Abbreviation:  Curr Opin Neurol Neurosurg     Publication Date:  1992 Oct 
Date Detail:
Created Date:  1992-11-20     Completed Date:  1992-11-20     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8809879     Medline TA:  Curr Opin Neurol Neurosurg     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  600-4     Citation Subset:  IM    
Affiliation:
University Department of Clinical Neurology, Institute of Neurology, London, UK.
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MeSH Terms
Descriptor/Qualifier:
Amyloidosis / genetics
Amyotrophic Lateral Sclerosis / genetics
Chromosome Aberrations / genetics
Chromosome Disorders
Genes, Dominant / genetics
Genes, Recessive / genetics
Hereditary Sensory and Motor Neuropathy / genetics
Humans
Molecular Biology*
Muscular Atrophy, Spinal / genetics
Muscular Diseases / genetics
Neuromuscular Diseases / genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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