scholarly journals A case of congenital myopathy masquerading as paroxysmal dyskinesia

2014 ◽  
Vol 17 (4) ◽  
pp. 441
Author(s):  
Sheffali Gulati ◽  
MeharC Sharma ◽  
Lokesh Saini ◽  
Harsh Patel ◽  
Biswaroop Chakrabarty
Keyword(s):  
Congenital Myopathy ◽  
Paroxysmal Dyskinesia

Paroxysmal dyskinesia due to PRRT2 mutation in 15-year-old female patient with benign familial infantile convulsions

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
F Brueckner ◽  
B Kohl ◽  
B Püst ◽  
S Gassner ◽  
S Biskup ◽  
...  
Keyword(s):  
Female Patient ◽  
Paroxysmal Dyskinesia

Biallelic PDE2A Mutations: A New Cause of Intellectual Disability with Paroxysmal Dyskinesia and/or Epilepsy

2019 ◽  
Author(s):  
D. Doummar ◽  
C. Dentel ◽  
V. Bouilleret ◽  
B. Dozieres-Puyravel ◽  
H. Nasser ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Paroxysmal Dyskinesia

Paroxysmal dyskinesia in sphynx cats

2021 ◽  
Vol 188 (3) ◽  
pp. 202-203
Author(s):  
Matthew Green ◽  
Mark Lowrie ◽  
Laurent Garosi ◽  
Claire Bessant
Keyword(s):  
Paroxysmal Dyskinesia

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness

2017 ◽  
Vol 136 (7) ◽  
pp. 903-910 ◽  
Author(s):  
Ellen Knierim ◽  
Esther Gill ◽  
Franziska Seifert ◽  
Susanne Morales-Gonzalez ◽  
Sathya D. Unudurthi ◽  
...  
Keyword(s):  
Congenital Myopathy ◽  
Recessive Mutation

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation

2021 ◽  
Author(s):  
Juliana Gurgel-Giannetti ◽  
Lucas Santos Souza ◽  
Guilherme Ferraz Messina de Pádua Andrade ◽  
Maria de Fátima Derlene ◽  
Zilda Maria Alves Meira ◽  
...  
Keyword(s):  
Heart Transplantation ◽  
Dilated Cardiomyopathy ◽  
Congenital Myopathy ◽  
Fiber Size

Outcomes and Complications in Management of Congenital Myopathy Early-Onset Scoliosis

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Lacey Magee ◽  
Joshua T. Bram ◽  
Jason B. Anari ◽  
Brandon Ramo ◽  
Oscar H. Mayer ◽  
...  
Keyword(s):  
Early Onset ◽  
Congenital Myopathy ◽  
Early Onset Scoliosis
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