Spectrum of sonographic changes in hereditary motor and sensory neuropathy with autosomal dominant and X-linked inheritance
نویسندگان
چکیده
منابع مشابه
Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessive. This is the second family in which autosomal recessive inheritance of HMSN and optic atrophy (...
متن کاملAutosomal 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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Autosomal dominant inheritance of a syndrome comprising palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy (HMSN) was observed in three generations of one family. Nail dystrophy affected the toe and fingernails; it was present at birth or developed during early childhood. Palmoplantar keratoderma became apparent in later childhood. Each subject with nail dystr...
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ژورنال
عنوان ژورنال: Neuromuscular Diseases
سال: 2016
ISSN: 2413-0443,2222-8721
DOI: 10.17650/2222-8721-2016-6-2-27-34