Click Here to return To Results

 

Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy Lancet 346:741-742, Brahe,C.,et al, 1995 See this aricle in Pubmed Article Abstract Molecular diagnosis of childhood proximal spinal muscular atrophy has been enhanced by the discovery of the survival motor neuron(SMN)gene,which is absent or truncated in 98-6%of patients.To determine whether deletion analysis of the SMN gene may also be diagnostic for adult-onset disease,we studied six patients and found deletions in all.This finding will facilitate the diagnosis of adult-onset spinal muscular atrophy,and provides evidence for genetic homogeneity between the clinically diverse adult and childhood forms of the disease.

Related Tags

(click to filter results - removes previous filter) anterior horn cell disease calf hypertrophy creatine phosphokinase(CPK)elevated gait disorder gait,waddling gene molecular genetics motor neuron disease muscle atrophy,progressive muscle weakness,proximal neurologic disease,diagnoses of proximal muscle atrophy spinal muscular atrophy spinal muscular atrophy,adult onset spinal muscular atrophy,intermediate form survival motor neuron gene

Click Here to return To Results