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Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
See this aricle in Pubmed

Article Abstract
There has been remarkable progress in the identification of mutations in genes that cause inherited neurological disorders.Abnormalities in the genes for Huntington disease,neurofibromatosis types 1 and 2,one form of familial amyotrophic lateral sclerosis,fragile X syndrome,myotonic dystrophy,Kennedy syndrome,Menkes disease,and several forms of retinitis pigmentosa have been elucidated.Rare disorders of neuronal migration such as Kallmann syndrome,Miller-Dieker syndrome,and Norrie disease have been shown to be due to specific gene defects.Several muscle disorders characterized by abnormal membrane excitability have been defined as mutations of the muscle sodium or chloride channels.These advances provide opportunity for accurate molecular diagnosis of at-risk individuals and are the harbinger of new approaches to therapy of these diseases.
 
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advances in neurology
degenerative diseases of CNS
fragile-X syndrome
gene mutation
genetic linkage
genetic neurologic disorders
genetic screening
genetic testing
Huntington's chorea
molecular genetics
muscular dystrophy
myopathy
myotonia dystrophica
neoplasm,primary intracranial
neoplasm,primary of CNS
neurologic disease
neurologic disease,diagnoses of
neuronal migration disorder
polymerase chain reaction
review article
spinocerebellar degeneration
trinucleotide repeats
X-linked bulbospinal neuronopathy

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