Bassen-Kornweig syndrome. Neuromuscular disorder resembling Friedreich's ataxia associated with retinitis pigmentosa, acanthocytosis, steatorrhea, and an abnormality of lipid metabolism.
SCHWARTZ
J F
JF
ROWLAND
L P
LP
EDER
H A
HA
MARKS
P M
PM
OSSERMAN
E
E
ANDERSON
H
H
HIRSCHBERG
E
E
D000012:Abetalipoproteinemia; D001259:Ataxia / Q000235:genetics*; D004912:Erythrocytes; D005621:Friedreich Ataxia; D041981:Gastrointestinal Tract / Q000502:physiology*; D006801:Humans; D050356:Lipid Metabolism; D008055:Lipids; D008499:Medical Records; D009462:Neurology / Q000235:genetics*; D009468:Neuromuscular Diseases; D012174:Retinitis Pigmentosa; D045602:Steatorrhea; D013577:Syndrome
D008055:Lipids
ATAXIA/genetics; ERYTHROCYTES; GASTROINTESTINAL SYSTEM/physiology; LIPIDS/metabolism; NEUROLOGY/genetics; RETINITIS PIGMENTOSA/case reports