Diers, Alexander

Painful enlargement of the calf muscles in limb girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. [electronic resource] - Neuromuscular disorders : NMD Feb 2007 - 157-62 p. digital

Publication Type: Case Reports; Journal Article

0960-8966

10.1016/j.nmd.2006.09.015 doi


Adolescent
Blotting, Western
Codon, Nonsense--physiology
DNA--biosynthesis
Dysferlin
Electrophoresis, Polyacrylamide Gel
Female
Heterozygote
Humans
Hypertrophy
Immunohistochemistry
Leg--pathology
Membrane Proteins--genetics
Muscle Fibers, Skeletal--pathology
Muscle Proteins--genetics
Muscle, Skeletal--pathology
Muscular Dystrophies, Limb-Girdle--genetics
Phenotype