Abstract
The Authors, referring to a clinical case, make a revision of the so-called atypic or intermediate forms of the heredo-atazies diseases and try to resolve the problem of their nosology, underlining the fact that these clinical forms tend to reveal themselves as different phenotypes, starting from a basic genotypes.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Adolescent
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Cerebellar Ataxia / diagnosis
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Cerebellar Ataxia / genetics*
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Consanguinity
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Esophageal Achalasia / complications
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Evoked Potentials
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Genes, Recessive
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Humans
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Male
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Muscles / physiopathology
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Neuromuscular Diseases / diagnosis
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Neuromuscular Diseases / genetics*
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Syndrome