SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
نویسندگان
چکیده
منابع مشابه
Autosomal recessive forms of hereditary motor and sensory neuropathy.
Six families are described with hereditary motor and sensory neuropathy (HMSN) of probable autosomal recessive inheritance. Four of these were classified as HMSN type I and two as type II. The consanguinity rate in this series was high, suggesting that these recessive genes are rare. In comparison with the dominantly inherited forms of these disorders, the mean age of onset was significantly ea...
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A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2018
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-018-1952-6