Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy

1999 ◽  
Vol 246 (2) ◽  
pp. 107-112 ◽  
Author(s):  
P. K. Thomas ◽  
D. Claus ◽  
R. H. M. King
Keyword(s):  
Autosomal Recessive ◽  
Sensory Neuropathy ◽  
Type Ii ◽  
Hereditary Motor ◽  
Recessive Type ◽  
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 Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients

2013 ◽  
Vol 8 (6) ◽  
pp. 1779-1784 ◽  
Author(s):  
DANA ŠAFKA BROŽKOVÁ ◽  
JAN POSÁDKA ◽  
PETRA LAŠŠUTHOVÁ ◽  
RADIM MAZANEC ◽  
JANA HABERLOVÁ ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Type Ii ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

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

Neurophysiological parameters in patients with hereditary motor and sensory neuropathy type II

2007 ◽  
Vol 118 (4) ◽  
pp. e124-e125
Author(s):  
J. Nikodinović ◽  
V. Milić-Rašić ◽  
S. Todorović ◽  
S. Apostolski ◽  
V. Rakočević-Stojanović ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Type Ii ◽  
Hereditary Motor ◽  
Motor And Sensory Neuropathy

HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE II

Brain ◽  
1986 ◽  
Vol 109 (5) ◽  
pp. 897-914 ◽  
Author(s):  
J. BERCIANO ◽  
O. COMBARROS ◽  
J. FIGOLS ◽  
J. CALLEJA ◽  
A. CABELLO ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Type Ii ◽  
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.

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