scholarly journals Autosomal recessive centronuclear myopathy

2020 ◽  
Author(s):  
Keyword(s):  
Autosomal Recessive ◽  
Centronuclear Myopathy

scholarly journals SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs

2005 ◽  
Vol 14 (11) ◽  
pp. 1417-1427 ◽  
Author(s):  
Manuel Pelé ◽  
Laurent Tiret ◽  
Jean-Louis Kessler ◽  
Stéphane Blot ◽  
Jean-Jacques Panthier
Keyword(s):  
Autosomal Recessive ◽  
Centronuclear Myopathy ◽  
Splicing Defects

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

2007 ◽  
Vol 39 (9) ◽  
pp. 1134-1139 ◽  
Author(s):  
Anne-Sophie Nicot ◽  
Anne Toussaint ◽  
Valérie Tosch ◽  
Christine Kretz ◽  
Carina Wallgren-Pettersson ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Centronuclear Myopathy ◽  
Dynamin 2

scholarly journals Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

2010 ◽  
Vol 5 (1) ◽  
pp. 35 ◽  
Author(s):  
Johann Böhm ◽  
Uluç Yiş ◽  
Ragıp Ortaç ◽  
Handan Çakmakçı ◽  
Semra Kurul ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Centronuclear Myopathy ◽  
Stop Mutation ◽  
Intrafamilial Variability

scholarly journals SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dog

2005 ◽  
Vol 14 (13) ◽  
pp. 1905-1906 ◽  
Author(s):  
Manuel Pelé ◽  
Laurent Tiret ◽  
Jean-Louis Kessler ◽  
Stéphane Blot ◽  
Jean-Jacques Panthier
Keyword(s):  
Autosomal Recessive ◽  
Centronuclear Myopathy ◽  
Splicing Defects

C.O.1 Identification of a new gene mutated in autosomal recessive centronuclear myopathy, and functional links with the dominant form

2007 ◽  
Vol 17 (9-10) ◽  
pp. 833
Author(s):  
A. Nicot ◽  
A. Toussaint ◽  
V. Tosch ◽  
C. Kretz ◽  
C. Wallgren-Pettersson ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Centronuclear Myopathy ◽  
Dominant Form ◽  
New Gene

Neuromuscular blocking effects of vecuronium in dogs with autosomal-recessive centronuclear myopathy

2015 ◽  
Vol 76 (4) ◽  
pp. 302-307 ◽  
Author(s):  
Manuel Martin-Flores ◽  
Monique D. Paré ◽  
Emily A. Tomak ◽  
Morgan L. Corn ◽  
Luis Campoy
Keyword(s):  
Autosomal Recessive ◽  
Neuromuscular Blocking ◽  
Centronuclear Myopathy ◽  
Blocking Effects

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney
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