Marinesco-Sjögren syndrome in a Bedouin family

Acta Neurologica Scandinavica
S FarahS A Al-Awadi

Abstract

Marinesco-Sjögren syndrome is rarely reported in the Middle East. This is the 2nd report of Marinesco-Sjögren syndrome in an Arab family. The clinical features of 2 affected brothers are described. Electrophysiological studies of the 2 patients showed primarily myopathic changes, whereas sural nerve biopsy revealed segmental demyelination and axonal degeneration. The role of tissue biopsy and the relationship to different electrophysiological studies are discussed. Both patients were noticed to have abnormally short lateral 3 metatarsals, a feature not present in other healthy members of the family. We suggest that this feature should be considered part of the syndrome profile.

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Citations

Sep 27, 2003·European Journal of Human Genetics : EJHG·C Lagier-TourenneM Koenig
Jan 6, 2005·American Journal of Medical Genetics. Part a·Anne SlavotinekElliott Sherr

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