L M Kunkel Selected Research

type 2C Limb-girdle muscular dystrophy

12/2003	Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation.
5/2000	Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations.

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L M Kunkel Research Topics

Disease

7	Muscular Dystrophies (Muscular Dystrophy) 09/2006 - 01/2000
5	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 03/2002 - 01/2000
3	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 09/2016 - 01/2000
3	Muscular Diseases (Myopathy) 08/2003 - 02/2000
2	type 2C Limb-girdle muscular dystrophy 12/2003 - 05/2000
1	Neurodevelopmental Disorders 09/2013
1	Autistic Disorder (Autism) 09/2013
1	Cardiomyopathies (Cardiomyopathy) 09/2013
1	Ophthalmoplegia (External Ophthalmoplegia) 08/2003
1	Minicore Myopathy with External Ophthalmoplegia 01/2003
1	Central Core Myopathy (Central Core Disease) 01/2003
1	Limb-girdle muscular dystrophy type 2A 06/2002
1	Atrophy 01/2001
1	Distal Myopathies (Distal Muscular Dystrophy) 01/2001
1	Limb-girdle muscular dystrophy type 2F 06/2000
1	Osteochondrodysplasias (Spondyloepiphyseal Dysplasia) 02/2000

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 09/2013 - 01/2000
6	DystrophinIBA 09/2016 - 01/2000
6	Sarcoglycans (beta Sarcoglycan)IBA 12/2003 - 01/2000
2	Dystrophin-Associated Protein ComplexIBA 03/2003 - 01/2001
2	Peptide Hydrolases (Proteases)FDA Link 06/2002 - 01/2001
2	CalpainIBA 06/2002 - 01/2001
2	Glycoproteins (Glycoprotein)IBA 01/2001 - 01/2000
1	Adenosine DeaminaseIBA 09/2013
1	EnzymesIBA 09/2013
1	RNA (Ribonucleic Acid)IBA 09/2013
1	immune RNA (I-RNA)IBA 09/2013
1	Dystrophin-Associated ProteinsIBA 08/2003
1	dystrobrevinIBA 08/2003
1	1,2- diarachidonoyl- glycero- 3- phosphocholineIBA 03/2003
1	AntibodiesIBA 01/2003
1	FilaminsIBA 01/2003
1	Caveolin 3IBA 04/2001
1	desmuslin (synemin)IBA 01/2001
1	DesminIBA 01/2001
1	DysferlinIBA 01/2001
1	ActininIBA 01/2001
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2001
1	Nonsense Codon (Nonsense Mutation)IBA 06/2000
1	Cartilage Oligomeric Matrix ProteinIBA 02/2000
1	Collagen Type IXIBA 02/2000