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Article

Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.

Neuromuscular disorders : NMD - 1 May 2013

Murakami Nobuyuki, Hayashi Yukiko K, Oto Yuji, Shiraishi Masahisa, Itabashi Hisashi, Kudo Kyoko, Nishino Ichizo, Nonaka Ikuya, Nagai Toshiro

Abstract excerpt

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 3 years and 11 months; he had a homozygous c.696_697insC mutation in polymerase I and transcript release factor (PTRF). He started to walk at 2 years and 6 months although he did not...

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PMID: 23489663
DOI: 10.1016/j.nmd.2013.02.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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