550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A--clinically misdiagnosed cases.
Bilyana
B
Georgieva
Albena
A
Todorova
Ivailo
I
Tournev
Vanyo
V
Mitev
Panagiotis
P
Plageras
Ivo
I
Kremensky
D000483:Alleles; D002154:Calpain / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
D007527:Isoenzymes; D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain