Article
Intrafamilial heterogeneity in hereditary motor neuron disease.
Neurology - 1 Aug 1992
Appelbaum J S, Roos R P, Salazar-Grueso E F, Buchman A, Iannaccone S, Glantz R, Siddique T, Maselli R
Abstract excerpt
Although there are varied inheritance patterns in motor neuron disease (MND), the phenotype of MND is reported to be constant within these families, ie, cases of amyotrophic lateral sclerosis or primary lateral sclerosis do not occur in pedigrees with cases of spinal muscular atrophy. We describe four pedigrees whose members diverged in the phenotype of MND expressed. The intrafamilial variation of phenotype...
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