Protein abnormalities in neuromuscular diseases--Part 2.
Different protein abnormalities have been found in several neuromuscular diseases and in some instances seem to be disease-specific. They do not necessarily represent "primary" defects and to date have only seldom led to beneficial therapy. But at the very least, these protein abnormalities provide handles which one may grasp in attempting to devise ways of arresting, curing, and preventing neuromuscular diseases.
Engel
W K
WK
Medical Neurology Branch, National Institute of Neurological Diseases and Blindness, Bethesda, Md. 20014, USA.
McFarlin
D E
DE
Drews
G A
GA
Wochner
R D
RD
D000686:Amyloidosis / Q000378:metabolism / Q000503:physiopathology; D006012:Glycogen Storage Disease Type V / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D007527:Isoenzymes / Q000032:analysis / Q000172:deficiency; D007770:L-Lactate Dehydrogenase / Q000032:analysis / Q000172:deficiency; D000080864:Lactate Dehydrogenase 5; D008661:Metabolism, Inborn Errors / Q000378:metabolism* / Q000503:physiopathology*; D009211:Myoglobin / Q000032:analysis; D009212:Myoglobinuria / Q000378:metabolism / Q000503:physiopathology; D009218:Myosins / Q000032:analysis; D009468:Neuromuscular Diseases / Q000209:etiology* / Q000378:metabolism*
D007527:Isoenzymes; D009211:Myoglobin; D007770:L-Lactate Dehydrogenase; D000080864:Lactate Dehydrogenase 5; D009218:Myosins