Infant with inadequate feeding and weight gain, progressive respiratory difficulty, hypotonia, and weakness, with onset at birth.
Pomerance
H H
HH
Pediatrics, University of South Florida College of Medicine, Tampa, Florida, USA. hpomeran@comf1.med.usf.edu
Gilbert-Barness
E
E
Gieron-Korthals
M
M
Lacson
A G
AG
Barnes
J
J
Fernandez
R
R
D017668:Age of Onset; D003711:Demyelinating Diseases / Q000151:congenital / Q000175:diagnosis* / Q000503:physiopathology; D004435:Eating; D006801:Humans; D007223:Infant; D007229:Infant Welfare; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D018908:Muscle Weakness / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012120:Respiration Disorders / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D015430:Weight Gain