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

被引：31

作者：

Murakami, Nobuyuki ^{[1
,2
]}

Hayashi, Yukiko K. ^{[2
,3
]}

Oto, Yuji ^{[1
]}

Shiraishi, Masahisa ^{[1
]}

Itabashi, Hisashi ^{[1
]}

Kudo, Kyoko ^{[4
]}

Nishino, Ichizo ^{[2
,3
]}

Nonaka, Ikuya ^{[2
]}

Nagai, Toshiro ^{[1
]}

机构：

[1] Dokkyo Med Univ, Dept Pediat, Koshigaya Hosp, Koshigaya, Saitama 3438555, Japan

[2] Natl Ctr Neurol & Psychol, Natl Inst Neurosci, Dept Neuromuscular Res, Kodaira, Tokyo, Japan

[3] Natl Ctr Neurol & Psychol, Translat Med Ctr, Dept Clin Dev, Kodaira, Tokyo, Japan

[4] Saitama Municipal Hosp, Dept Pediat, Saitama, Japan

来源：

NEUROMUSCULAR DISORDERS | 2013年 / 23卷 / 05期

关键词：

PTRF; Generalized lipodystrophy; Muscular dystrophy; Insulin resistance; Muscle mounding;

D O I：

10.1016/j.nmd.2013.02.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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 land transcript release factor (PTRF). He started to walk at 2 years and 6 months although he did not have mental retardation. Insulin resistance appeared at 3 years and 11 months of age. PTRF immunostaining positivity was absent in the muscle but caveolin-3 was preserved in the sarcolemma at 16 months of age. Secondary deficiency of caveolins may be closely associated with disease progression. (C) 2013 Elsevier B.V. All rights reserved.

引用

页码：441 / 444

页数：4

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