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Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN): Two Phenotypes--Dystonia and Spastic Paraparesis.

Authors :
Kola, Sruthi
Meka, Sai S. L.
Fathima, Syed T.
Wahed, Abdul
Kandadai, Rukmini M.
Borgohain, Rupam
Source :
Annals of Indian Academy of Neurology; Nov/Dec2022, Vol. 25 Issue 6, p1200-1202, 3p
Publication Year :
2022

Abstract

Several case studies of a 16‑year‑old male born of nonconsanguineous parentage with normal birth and developmental history presented with foot episodes for 4 years; and 23‑year‑old female born of consanguineous parentage presented with abnormal posturing of all limbs for 12 years, is presented. Topics include bilateral symmetrical hypointensities along with Medial medullary lamina; and genetic mutation can be considered for genotype‑phenotype correlation for Indian patients.

Details

Language :
English
ISSN :
09722327
Volume :
25
Issue :
6
Database :
Complementary Index
Journal :
Annals of Indian Academy of Neurology
Publication Type :
Academic Journal
Accession number :
160695298
Full Text :
https://doi.org/10.4103/aian.aian_658_22