Hereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsies

2001 ◽  
Vol 50 (4) ◽  
pp. 452-457 ◽  
Author(s):  
P. K. Thomas ◽  
Luba Kalaydjieva ◽  
Brian Youl ◽  
Tamara Rogers ◽  
Dora Angelicheva ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

scholarly journals SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

2018 ◽  
Vol 137 (11-12) ◽  
pp. 911-919 ◽  
Author(s):  
Katharina Vill ◽  
Wolfgang Müller-Felber ◽  
Dieter Gläser ◽  
Marius Kuhn ◽  
Veronika Teusch ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

scholarly journals Autosomal Recessive Motor and Sensory Neuropathy with Excessive Myelin Outfolding in Two Siblings

1994 ◽  
Vol 21 (1) ◽  
pp. 29-33 ◽  
Author(s):  
F. Barbieri ◽  
R. Santangelo ◽  
G. Capparelli ◽  
A. Ciccarelli ◽  
C. Crisci
Keyword(s):  
Clinical Features ◽  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Nerve Biopsy ◽  
Female Offspring ◽  
Morphometric Study ◽  
Type I ◽  
Hereditary Motor ◽  
Morphological Findings ◽  
Motor And Sensory Neuropathy

ABSTRACT:Two siblings, a 35-year-old male and a 37-year-old female, offspring of first cousins, presented with a hereditary motor and sensory neuropathy with type I clinical features which began to manifest at about age 10 years. Nerve biopsy in the proband showed it to be a type characterized by excessive myelin outfolding. Morphometric study revealed hypomyelination with focal thickenings due to outfoldings. Clinical, electrophysiological and morphological findings are virtually identical to those described by Ohnishi et al. The peculiarity of the neuropathological picture suggests a particular form of hereditary motor and senory neuropathy.

Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood

2007 ◽  
Vol 36 (2) ◽  
pp. 131-143 ◽  
Author(s):  
Robert Ouvrier ◽  
Nimeshan Geevasingha ◽  
Monique M. Ryan
Keyword(s):  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

Autosomal Recessive Hereditary Motor and Sensory Neuropathy with Focally Folded Myelin Sheaths (CMT4B)

1999 ◽  
Vol 883 (1) ◽  
pp. 47-55 ◽  
Author(s):  
ANTONIO GAMBARDELLA ◽  
FRANCESCO BONO ◽  
MARIELLA MUGLIA ◽  
PAOLA VALENTINO ◽  
ALDO QUATTRONE
Keyword(s):  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Hereditary Motor ◽  
Myelin Sheaths ◽  
Motor And Sensory Neuropathy
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