Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene

2016 ◽  
Vol 38 (1) ◽  
pp. 167-172 ◽  
Author(s):  
Manuel Castro-Gago ◽  
David Dacruz-Alvarez ◽  
Elena Pintos-Martínez ◽  
Andrés Beiras-Iglesias ◽  
Joaquín Arenas ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Neurogenic Muscular Atrophy

scholarly journals Chorea-Acanthocytosis: Report of a Family and Neuropathological Study of Two Cases

1989 ◽  
Vol 16 (4) ◽  
pp. 426-431 ◽  
Author(s):  
Ma. Elisa Alonso ◽  
Fernanda Teixeira ◽  
Guillermo Jimenez ◽  
Alfonso Escobar
Keyword(s):  
Autosomal Recessive ◽  
Gastrocnemius Muscle ◽  
Muscular Atrophy ◽  
Neuronal Loss ◽  
Autosomal Recessive Inheritance ◽  
Normal Serum ◽  
Neurological Illness ◽  
Neurogenic Muscular Atrophy ◽  
Fourth Decade ◽  
Marked Atrophy

ABSTRACT:We report three siblings, offspring of normal consanguineous parents, with a progressive neurological illness that began in midlife and was characterized primarily by chorea and leading to death in the fourth decade. The proband had erythrocyte acanthocytosis with normal serum β-lipoprotein. Biopsy of left gastrocnemius muscle showed neurogenic muscular atrophy. There was a decrease in the numbers of large myelinated axons of the sural nerve. Postmortem examination of two cases showed marked atrophy, neuronal loss and gliosis of the caudate nucleus and putamen. Autosomal recessive inheritance is likely in this family.

Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest

2011 ◽  
Vol 53 (2) ◽  
pp. 159-161 ◽  
Author(s):  
Hisashi Kawashima ◽  
Chiako Ishii ◽  
Gaku Yamanaka ◽  
Hiroaki Ioi ◽  
Shigeo Nishimata ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Cardiopulmonary Arrest ◽  
Neurogenic Muscular Atrophy

scholarly journals Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” [Brain Dev. 38 (2016) 167–172]

2016 ◽  
Vol 38 (8) ◽  
pp. 783
Author(s):  
Manuel Castro-Gago ◽  
David Dacruz-Alvarez ◽  
Elena Pintos-Martínez ◽  
Andrés Beiras-Iglesias ◽  
Joaquín Arenas ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Neurogenic Muscular Atrophy

scholarly journals A CASE OF SKIN ATROPHY, NEUROGENIC MUSCULAR ATROPHY AND ANXIETY REACTION FOLLOWING LONG EXOPOSURE TO STYRENE

Sangyo Igaku ◽  
1971 ◽  
Vol 13 (5) ◽  
pp. 427-431
Author(s):  
Shunichi ARAKI ◽  
Akira ABE ◽  
Koichi USHIO ◽  
Masayuki FUJINO
Keyword(s):  
Muscular Atrophy ◽  
Skin Atrophy ◽  
Anxiety Reaction ◽  
Neurogenic Muscular Atrophy
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