Autosomal recessive form of hereditary motor and sensory neuropathy type I

Neurology ◽  
1992 ◽  
Vol 42 (9) ◽  
pp. 1755-1755 ◽  
Author(s):  
A. A.W.M. Gabreels-Festen ◽  
F.J.M. Gabreels ◽  
F. G.I. Jennekens ◽  
E. M.G. Joosten ◽  
T. W.J.-v. Kempen
Keyword(s):  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Type I ◽  
Hereditary Motor ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
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.

Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form

2004 ◽  
Vol 9 (2) ◽  
pp. 122-123 ◽  
Author(s):  
ML Mostacciuolo ◽  
E Crestanello ◽  
F Boaretto ◽  
E Boscolo ◽  
M Liguori ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Hereditary Motor Neuropathy

Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype

1994 ◽  
Vol 17 (1) ◽  
pp. 85-90 ◽  
Author(s):  
Jessica E. Hoogendijk ◽  
Marianne de Visser ◽  
Pieter A. Bolhuis ◽  
Augustinus A. M. Hart ◽  
Bram W. Ongerboer de Visser
Keyword(s):  
Sensory Neuropathy ◽  
Type I ◽  
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

Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers

Genomics ◽  
1989 ◽  
Vol 4 (2) ◽  
pp. 192-197 ◽  
Author(s):  
H.R. Middleton-Price ◽  
A.E. Harding ◽  
J. Berciano ◽  
J.M. Pastor ◽  
S.M. Huson ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Chromosome 1 ◽  
Type I ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

A Family of Hereditary Motor and Sensory Neuropathy Type I with a Mutation (Arg98→His) in Myelin Po ― Report on a Second Japanese Family

1996 ◽  
Vol 18 (1) ◽  
pp. 19-29 ◽  
Author(s):  
Akio OHNISHI ◽  
Eriko KASHIWADA ◽  
Tomoko HASHIMOTO ◽  
Tatsunori YAMAMOTO ◽  
Yoshiyuki MURAI ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Type I ◽  
Japanese Family ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

Thin axons relative to myelin spiral length in hereditary motor and sensory neuropathy, type I

1983 ◽  
Vol 14 (6) ◽  
pp. 648-655 ◽  
Author(s):  
Hitoshi Nukada ◽  
Peter James Dyck ◽  
Jeannine L. Karnes
Keyword(s):  
Sensory Neuropathy ◽  
Type I ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy
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