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Lipodystrophic muscular hypertrophy.

作者信息

SENIOR B

出版信息

Arch Dis Child. 1961 Aug;36(188):426-31. doi: 10.1136/adc.36.188.426.

DOI:10.1136/adc.36.188.426
PMID:13750097
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2012711/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1597/2012711/bb0c70fd85bf/archdisch01601-0083-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1597/2012711/31f4afbb90d1/archdisch01601-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1597/2012711/4fcc3e42461b/archdisch01601-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1597/2012711/bb0c70fd85bf/archdisch01601-0083-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1597/2012711/31f4afbb90d1/archdisch01601-0081-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1597/2012711/4fcc3e42461b/archdisch01601-0082-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1597/2012711/bb0c70fd85bf/archdisch01601-0083-a.jpg

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1
Lipodystrophic muscular hypertrophy.
Arch Dis Child. 1961 Aug;36(188):426-31. doi: 10.1136/adc.36.188.426.
2
[Generalized muscular hypertrophy with early onset, with facial lipodystrophy, hepatomegaly and clitoris hypertrophy in an 11-year-old girl. I].
Arch Fr Pediatr. 1956;13(3):276-85.
3
CONGENITAL TYPE OF GENERALIZED LIPODYSTROPHY.先天性全身性脂肪营养不良类型
Acta Paediatr Scand. 1965 Mar;54:175-9. doi: 10.1111/j.1651-2227.1965.tb06359.x.
4
[LIPODYSTROPHY WITH MUSCULAR HYPERTROPHY].
Cesk Pediatr. 1964 May;19:425-30.
5
Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.由于LMNA基因R482W突变导致的邓尼根型家族性部分脂肪营养不良患者表现出肌肉和心脏异常。
J Clin Endocrinol Metab. 2004 Nov;89(11):5337-46. doi: 10.1210/jc.2003-031658.
6
[Pathoanatomical studies in hypermuscular lipodystrophy].
Probl Endokrinol (Mosk). 1976 Jul-Aug;22(4):35-9.
7
Lipodystrophic muscular hypertrophy with arthrogryposis multiplex congenita.
Indian J Pediatr. 1966 May;33(220):152-6. doi: 10.1007/BF02755466.
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An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy.
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Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.脂肪营养不良患者神经肌肉表现的临床谱：一项多中心研究。
Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1.
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[Hypothyroidism and hypertrophic myopathy syndrome in a 4 year old child].[一名4岁儿童的甲状腺功能减退症与肥厚性肌病综合征]
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Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy.家族性部分脂肪营养不良患者的肌肉线粒体功能受损。
J Clin Endocrinol Metab. 2022 Jan 18;107(2):346-362. doi: 10.1210/clinem/dgab725.
2
The CCR4-NOT Deadenylase Complex Maintains Adipocyte Identity.CCR4-NOT 去腺苷酸酶复合物维持脂肪细胞的身份。
Int J Mol Sci. 2019 Oct 24;20(21):5274. doi: 10.3390/ijms20215274.
3
Lipodystrophy and severe metabolic dysfunction in mice with adipose tissue-specific insulin receptor ablation.脂肪组织特异性胰岛素受体消融小鼠的脂肪营养不良和严重代谢功能障碍。

本文引用的文献

1
Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?脂肪营养不良和巨人症伴相关内分泌表现。一种新的间脑综合征？
Acta Paediatr (Stockh). 1959 Nov;48:555-74.
2
Generalized lipoatrophy, hepatic cirrhosis, disturbed carbohydrate metabolism and accelerated growth (lipoatrophic diabetes). Longitudinal observations and metabolic studies.
Am J Med. 1960 Jun;28:973-85. doi: 10.1016/0002-9343(60)90207-2.
3
On adiposity.论肥胖症
Mol Metab. 2016 May 14;5(7):480-490. doi: 10.1016/j.molmet.2016.05.005. eCollection 2016 Jul.
4
Altered miRNA processing disrupts brown/white adipocyte determination and associates with lipodystrophy.微小RNA加工过程的改变会破坏棕色/白色脂肪细胞的决定，并与脂肪营养不良相关。
J Clin Invest. 2014 Aug;124(8):3339-51. doi: 10.1172/JCI73468. Epub 2014 Jul 1.
5
What's the matter with MAT? Marrow adipose tissue, metabolism, and skeletal health.MAT 有何问题？骨髓脂肪组织、代谢与骨骼健康。
Ann N Y Acad Sci. 2014 Apr;1311(1):14-30. doi: 10.1111/nyas.12327. Epub 2014 Mar 20.
6
Berardinelli-Seip lipodystrophy.
Skeletal Radiol. 2007 Oct;36(10):999-1003. doi: 10.1007/s00256-007-0332-4. Epub 2007 Jun 7.
7
DYSTROPHIC CHANGES ASSOCIATED WITH LEPRECHAUNISM IN A MALE INFANT.一名男婴中与拉普-莱伦侏儒症相关的营养不良性改变。
Arch Dis Child. 1963 Oct;38(201):530-5. doi: 10.1136/adc.38.201.530.
8
GENERALIZED LIPODYSTROPHY.全身性脂肪营养不良
Arch Dis Child. 1963 Oct;38(201):447-53. doi: 10.1136/adc.38.201.447.
9
Lipoatrophic diabetes.脂肪萎缩性糖尿病
Clin Investig. 1993 Apr;71(4):264-9. doi: 10.1007/BF00184724.
10
Lipodystrophic muscular hypertrophy with arthrogryposis multiplex congenita.
Indian J Pediatr. 1966 May;33(220):152-6. doi: 10.1007/BF02755466.
Br Med J. 1960 Aug 6;2(5196):407-14. doi: 10.1136/bmj.2.5196.407.
4
[Generalized muscular hypertrophy with early onset, with facial lipodystrophy, hepatomegaly and clitoris hypertrophy in an 11-year-old girl. I].
Arch Fr Pediatr. 1956;13(3):276-85.
5
Leprechaunism: a euphemism for a rare familial disorder.矮妖精貌综合征：一种罕见家族性疾病的委婉说法。
J Pediatr. 1954 Nov;45(5):505-19. doi: 10.1016/s0022-3476(54)80113-2.
6
Generalized lipodystrophy, infectious mononucleosis, mild infantile hemiplegia.全身性脂肪营养不良、传染性单核细胞增多症、轻度婴儿偏瘫。
Proc R Soc Med. 1954 Feb;47(2):128-9. doi: 10.1177/003591575404700210.
7
An undiagnosed endocrinometabolic syndrome: report of 2 cases.一种未确诊的内分泌代谢综合征：2例报告。
J Clin Endocrinol Metab. 1954 Feb;14(2):193-204. doi: 10.1210/jcem-14-2-193.
8
Lipodystrophy.脂肪营养不良
Br Med J. 1952 Dec 6;2(4796):1236-9. doi: 10.1136/bmj.2.4796.1236.