Results 161 to 170 of about 2,813 (174)

Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy

2012
openaire   +1 more source

Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

Muscle and Nerve, 2015
Marina Fanin, Corrado Angelini
exaly  

Clinical and molecular characterization of limb‐girdle muscular dystrophy due to LAMA2 mutations

Muscle and Nerve, 2011
Else R Danielsen, Luca Bello, Maria Giovanna Marrosu   +2 more
exaly  

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Neuromuscular Disorders, 2014
Julien Couthouis, Andrew R Findlay, Jason D Buenrostro   +2 more
exaly  

Case Report: Marked Cardiac Involvement in Limb-Girdle Muscular Dystrophy

American Journal of the Medical Sciences, 1990
Seinosuke Kawashima, Tomohiro Kondo
exaly  

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of α-dystroglycan

Neuromuscular Disorders, 2003
Pervin Dinçer, Martin Brockington, Sue Brown   +2 more
exaly  

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B

Journal of the Neurological Sciences, 2018
Okubo, Mariko, Iida, Aritoshi, Hayashi, Shinichiro, Mori-Yoshimura, Madoka, Oya, Yasushi, Watanabe, Akihiro, Arahata, Hajime, El Sherif, Rasha, Noguchi, Satoru, Nishino, Ichizo   +9 more
openaire   +2 more sources

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

2000
Elizabeth M Mcnally, Hanna Rosenmann, Louise V B Anderson   +2 more
exaly  

Electron microscopic findings of cardiomyopathy with limb girdle muscular dystrophy

International Journal of Cardiology, 2005
Katsuya Onishi, Masaki Tanabe, Satoshi Kuru   +2 more
exaly  

A Gene for Autosomal Recessive Limb-Girdle Muscular Dystrophy in Manitoba Hutterites Maps to Chromosome Region 9q31-q33: Evidence for Another Limb-Girdle Muscular Dystrophy Locus

American Journal of Human Genetics, 1998
Tracey Weiler, Cheryl R Greenberg, TERESA Zelinski   +2 more
exaly