TY - JOUR
T1 - Muscle Carnitine Deficiency
T2 - Association With Lipid Myopathy, Vacuolar Neuropathy, and Vacuolated Leukocytes
AU - Markesbery, William R.
AU - Mcquillen, Michael P.
AU - Procopis, Peter G.
AU - Harrison, Alvin R.
AU - Engel, Andrew G.
PY - 1974/11
Y1 - 1974/11
N2 - A 61-year-old woman had proximal muscle weakness since 38 years of age. Eventually, her distal muscles became affected and she showed widespread muscle wasting, absent tendon reflexes, and electromyographic findings of a neuropathy. On biopsy, there was a lipid storage myopathy, lipid-containing vacuoles in leukocytes, and vacuoles in Schwann cells. The muscle carnitine level was abnormally low, but the serum carnitine level was normal. The findings are consistent with a generalized disorder of carnitine metabolism that may involve carnitine transport across cell membranes.
AB - A 61-year-old woman had proximal muscle weakness since 38 years of age. Eventually, her distal muscles became affected and she showed widespread muscle wasting, absent tendon reflexes, and electromyographic findings of a neuropathy. On biopsy, there was a lipid storage myopathy, lipid-containing vacuoles in leukocytes, and vacuoles in Schwann cells. The muscle carnitine level was abnormally low, but the serum carnitine level was normal. The findings are consistent with a generalized disorder of carnitine metabolism that may involve carnitine transport across cell membranes.
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U2 - 10.1001/archneur.1974.00490410068007
DO - 10.1001/archneur.1974.00490410068007
M3 - Article
C2 - 4414743
AN - SCOPUS:0016262337
SN - 0003-9942
VL - 31
SP - 320
EP - 324
JO - Archives of neurology
JF - Archives of neurology
IS - 5
ER -