2012
DOI: 10.1159/000336212
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Clinical Follow-Up and Histopathology of the Temporal Bones in Nathalie Syndrome

Abstract: The Nathalie syndrome (OMIM 255990) comprises a combination of features that do not resemble any other known syndrome and is as such an independent, rare entity. It is characterized by sensorineural hearing impairment, juvenile cataract, spinal muscular atrophy, skeletal abnormalities, retardation of growth, underdeveloped secondary gender characteristics and cardiomyopathy. Worldwide, only one family with this syndrome is known. An update of the clinical follow-up in this family and the results of autopsy are… Show more

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Cited by 1 publication
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References 35 publications
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“…Bulbospinal muscular atrophy (BMA) may be present in patients with BVVL, Nathalie, Madras, and, in adults, the Kennedy syndrome [2,5,8,9]. BVVL syndrome is due to mutation of SLC52A2 and SLC52A3 genes, encoding for proteins necessary for riboflavin transport [13].…”
mentioning
confidence: 99%
“…Bulbospinal muscular atrophy (BMA) may be present in patients with BVVL, Nathalie, Madras, and, in adults, the Kennedy syndrome [2,5,8,9]. BVVL syndrome is due to mutation of SLC52A2 and SLC52A3 genes, encoding for proteins necessary for riboflavin transport [13].…”
mentioning
confidence: 99%