Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood
N Murakami, YK Hayashi, Y Oto, M Shiraishi… - Neuromuscular …, 2013 - Elsevier
A boy with congenital generalized lipodystrophy type 4 with muscular dystrophy presented
in infancy with delay in motor milestones and a persistent elevation of CK. There was no
associated mental retardation. He was followed up to 3years and 11months; he had a
homozygous c. 696_697insC mutation in polymerase I and transcript release factor (PTRF).
He started to walk at 2years and 6months although he did not have mental retardation.
Insulin resistance appeared at 3years and 11months of age. PTRF immunostaining positivity …
in infancy with delay in motor milestones and a persistent elevation of CK. There was no
associated mental retardation. He was followed up to 3years and 11months; he had a
homozygous c. 696_697insC mutation in polymerase I and transcript release factor (PTRF).
He started to walk at 2years and 6months although he did not have mental retardation.
Insulin resistance appeared at 3years and 11months of age. PTRF immunostaining positivity …