ISSN:
1432-1459
Keywords:
Key words Hereditary motor and
;
sensory neuropathy
;
Axonopathy
;
Autosomal recessive inheritance
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A family is described with presumed autosomal recessive inheritance in which three siblings developed a progressive neuropathy that combined limb weakness and severe distal sensory loss leading to prominent mutilating changes. Electrophysiological and nerve biopsy findings indicated an axonopathy. The disorder is therefore classifiable as type II hereditary motor and sensory neuropathy (HMSN II). The clinical features differ from those reported in previously described cases of autosomal recessive HMSN II. This disorder may therefore represent a new variant.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004150050316
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