Literature DB >> 4081538

[Unusual familial association of epilepsy, myoclonus and muscular atrophy. Case report].

G D'Ecclesia, V Scorrano, C Bernardini, V Poli.   

Abstract

Here is a rare association of spinal muscular atrophy, myoclonia and epilepsy in two brothers. Analogies and particular aspects are discussed in comparison with the only case known in literature up to now.

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Year:  1985        PMID: 4081538

Source DB:  PubMed          Journal:  Riv Neurol        ISSN: 0035-6344


  1 in total

Review 1.  Acid ceramidase deficiency: Farber disease and SMA-PME.

Authors:  Fabian P S Yu; Samuel Amintas; Thierry Levade; Jeffrey A Medin
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123

  1 in total

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