minicore disease
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Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement

2019 ◽  
Vol 29 (5) ◽  
pp. 350-357 ◽  
Author(s):  
Lin Ge ◽  
Xiaona Fu ◽  
Wei Zhang ◽  
Dong Wang ◽  
Zhaoxia Wang ◽  
...  
Keyword(s):  
Cardiac Involvement ◽  
Recessive Mutations ◽  
Minicore Disease

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

2012 ◽  
Vol 22 (12) ◽  
pp. 1096-1104 ◽  
Author(s):  
T. Cullup ◽  
P.J. Lamont ◽  
S. Cirak ◽  
M.S. Damian ◽  
W. Wallefeld ◽  
...  
Keyword(s):  
Cardiac Involvement ◽  
Minicore Disease

C.P.6 Study of a novel autosomal recessive minicore disease

2012 ◽  
Vol 22 (9-10) ◽  
pp. 842
Author(s):  
K.S. Yau ◽  
P.J. Lamont ◽  
V. Fabian ◽  
N. Kresoje ◽  
P. Sivadorai ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Minicore Disease

scholarly journals Clinical utility gene card for: Multi-minicore disease

2011 ◽  
Vol 20 (2) ◽  
pp. 5-5
Author(s):  
Suzanne Lillis ◽  
Steve Abbs ◽  
Ana Ferreiro ◽  
Francesco Muntoni ◽  
Heinz Jungbluth
Keyword(s):  
Clinical Utility ◽  
Minicore Disease

scholarly journals Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

2010 ◽  
Vol 20 (3) ◽  
pp. 166-173 ◽  
Author(s):  
Haiyan Zhou ◽  
Suzanne Lillis ◽  
Ryan E. Loy ◽  
Farshid Ghassemi ◽  
Michael R. Rose ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Ryanodine Receptor ◽  
Periodic Paralysis ◽  
Novel Mutations ◽  
Ryr1 Gene ◽  
Minicore Disease

Central Core and Multi-Minicore Disease

2009 ◽  
pp. 300-302
Author(s):  
Nils Peters ◽  
Martin Dichgans ◽  
Sankar Surendran ◽  
Josep M. Argilés ◽  
Francisco J. López-Soriano ◽  
...  
Keyword(s):  
Central Core ◽  
Minicore Disease

scholarly journals Distal Myopathy in Multi-minicore Disease

2009 ◽  
Vol 48 (19) ◽  
pp. 1759-1762 ◽  
Author(s):  
Satomi Mitsuhashi ◽  
Ikuya Nonaka ◽  
Shiwen Wu ◽  
Carlos Alberto Ibarra Moreno ◽  
Sherine Shalaby ◽  
...  
Keyword(s):  
Distal Myopathy ◽  
Minicore Disease

G.P.13.06 Distal myopathy in multi-minicore disease

2008 ◽  
Vol 18 (9-10) ◽  
pp. 808-809
Author(s):  
S. Okahashi ◽  
I. Nonaka ◽  
S. Wu ◽  
C.A.M. Ibarra ◽  
S. Shalaby ◽  
...  
Keyword(s):  
Distal Myopathy ◽  
Minicore Disease
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