WordNet

draw from specific cases for more general cases (同)generalise, extrapolate, infer
become systemic and spread throughout the body; "this kind of infection generalizes throughout the immune system" (同)generalise
speak or write in generalities (同)generalise
not biologically differentiated or adapted to a specific function or environment; "the hedgehog is a primitive and generalized mammal" (同)generalised
present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

PrepTutorEJDIC

(病気・身体的欠陥など)生まれつきの,先天的な

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/07/24 14:33:18」(JST)

wiki en

Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is a very rare autosomal recessive skin condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.^[1] Only 250 cases of the condition have been reported, and it is estimated that it occurs in 1 in 10 million people worldwide. ^[2]

Presentation[edit]

Congenital Generalized Lipodystrophy (CGL) is a rare autosomal recessive disorder which manifests with insulin resistance, absence of subcutaneous fat and muscular hypertrophy.^[3] The condition appears in early childhood with accelerated linear growth, quick aging of bones, and a large appetite. As the child grows up, acanthosis nigricans (hyperpigmentation and thickening of skin) will begin to present itself throughout the body - mainly in the neck, trunk, and groin. ^[2] The disorder also has characteristic features like hepatomegaly or an enlarged liver which arises from fatty liver and may lead to cirrhosis, muscle hypertrophy, lack of adipose tissue, splenomegaly, hirsutism (excessive hairiness) and hypertriglyceridemia.^[4] Common cardiovascular problems related to this syndrome are cardiac hypertrophy and arterial hypertension (high blood pressure).^[5] This disorder can also cause with metabolic syndrome. Most with the disorder also have a prominent umbilicus or umbilical hernia. Commonly, patients will also have acromegaly with enlargement of the hands, feet, and jaw. After puberty, additional symptoms can develop. In women, clitoromegaly and the polycystic ovary syndrome can develop. This impairs fertility for the women, and only a few documented cases of successful pregnancies in women with CGL exist. However, the fertility of men with the disorder is unaffected. ^[2]

Type 1 vs Type 2 Differences[edit]

There are differences in how Type 1 vs Type 2 patients are affected by the disease. In type 1 patients, they still have mechanical adipose tissue, but type 2 patients do not have any adipose tissue, including mechanical.^[6] In type 2 patients, there is a greater likelihood of psychomotor retardation and intellectual impairment. ^[7]

Diagnosis[edit]

Medical diagnosis of CGL can be made after observing the physical symptoms of the disease: lipoatrophy (loss of fat tissues) affecting the trunk, limbs, and face; hepatomegaly; acromegaly; insulin resistance; and high serum levels of triglycerides. Genetic testing can also confirm the disease, as mutations in the AGPAT2 gene is indicative of CGL1, a mutation in the BSCL2 gene is indicative of CGL2, and mutations in the CAV1 and PTRF genes are indicative of CGL3 and CGL4 respectively.^[7] Physical diagnosis of CGL is easier, as CGL patients are recognizable from birth, due to their extreme muscular appearance, which is caused by the absence of subcutaneous fat. ^[6]

CGL3 patients have serum creatine kinase concentrations much higher than normal (2.5 to 10 times the normal limit). This can be used to diagnose type 3 patients and differentiate them from CGL 1 and 2 without mapping their genes. Additionally, CGL3 patients have low muscle tone when compared with other CGL patients.^[8]

Mechanism[edit]

Type 1[edit]

In individuals with Type 1 CGL, the disorder is caused by a mutation at the AGPAT2 gene encoding 1-acylglycerol-3-phosphate O-acyltransferase 2 and located at 9q34.3. This enzyme catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, which is important in the biosynthesis of fats. This enzyme is highly expressed in adipose tissue, so it can be concluded that when the enzyme is defective in CGL, lipids cannot be stored in the adipose tissue. ^[9]

Type 2[edit]

In those who have Type 2 CGL, a mutation in the BSCL2 gene encoding the Seipin protein and located at 11q13. This gene encodes a protein, Seipin, whose function is unknown. Expression of mRNA for the seipin protein is high in the brain, yet low in adipose tissues. Additionally, patients which have mutations in this protein have a higher incidence of mental retardation and lack mechanically active adipose tissue, which is present in those with AGPAT2 mutations.^[2]

Type 3[edit]

Type 3 CGL involves a mutation is caused by a mutation in the CAV1 gene. This gene codes for the Caveolin protein, which is a scaffolding membrane protein. This protein plays a role in lipid regulation. High levels of Cav1 are normally expressed in adipocytes. Thus, when the CAV1 gene mutates the adipocytes do not have Cav1 and are unable to properly regulate lipid levels. ^[10]

Type 4[edit]

A mutation in the PTRF gene causes Type 4 CGL. This gene codes for a protein called polymerase I and transcript release factor. One of the roles the PTRF product has it to stabilize and aid in formation of caveolae. Thus, the mechanism is similar to Type 3, in that the caveolae are unable to properly form and carry out their role in lipid regulation in both. Types 3 and 4 are two different mutations but they share a common defective pathway. ^[11]

Treatment[edit]

Metformin is the main drug used for treatment, as it is normally used for patients with hyperglycemia. ^[12] Metformin reduces appetite and improves symptoms of hepatic steatosis and polycystic ovary syndrome. ^[2] Leptin can also be used to reverse insulin resistance and hepatic steatosis, to cause reduced food intake, and decrease blood glucose levels. ^[13]

Diet[edit]

CGL patients have to maintain a strict diet for life, as their excess appetite will cause them to overeat. Carbohydrate intake should be restricted in these patients. To avoid chylomicronemia, CGL patients with hypertriglyceridemia need to have a diet very low in fat. CGL patients also need to avoid total proteins, trans fats, and eat high amounts of soluble fiber to avoid getting high levels of cholesterol in the blood. ^[14]

History[edit]

Congenital Generalized Lipodystrophy, also known as Berardinelli–Seip lipodystrophy was first described in 1954 by Berardinelli^[15] and later by Seip in 1959.^[16] The gene for type 1 CGL was identified as AGPAT2 at chromosome 9q34,^[17] and later the gene for type 2 CGL was identified as BSCL2 at chromosome 11q13.^[18] More recently, type 3 CGL was identified as a separate type of CGL, which was identified as a mutation in the CAV1 gene. Then, a separate type 4 CGL was identified as a mutation in the PTRF gene.^[19]

Genetics[edit]

OMIM	Type	Gene Locus
608594	CGL1	AGPAT2 at 9q34.3
269700	CGL2	BSCL2 at 11q13
612526	CGL3	CAV1 at 7q31.1
613327	CGL4	PTRF at 17q21

External links[edit]

GeneReviews/NCBI/NIH/UW entry on Berardinelli-Seip Congenital Lipodystrophy

References[edit]

^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 495. ISBN 0-7216-2921-0.
^ ^a ^b ^c ^d ^e Garg, A (Mar 2004). "Acquired and inherited lipodystrophies". The New England Journal Of Medicine 350 (12): 1220–1234. doi:10.1056/NEJMra025261. PMID 15028826.
^ Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G (2009). "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation". Eur J Med Genet 52 (1): 14–6. doi:10.1016/j.ejmg.2008.10.006. PMID 19041432. Retrieved 2009-03-04.
^ Gürakan F, Koçak N, Yüce A (1995). "Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings". Turk. J. Pediatr. 37 (3): 241–6. PMID 7502362. |accessdate= requires |url= (help)
^ Viégas RF, Diniz RV, Viégas TM, Lira EB, Almeida DR (September 2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. PMID 11018810.
^ ^a ^b Khandpur, Sujay. "Congenital generalized lipodystrophy of Berardinelli-Seip type: A rare case". Indian Journal Of Dermatology, Venereology And Leprology. p. 402. Retrieved October 16, 2012.
^ ^a ^b Van Maldergem, Lionel (1993). "Berardinelli-Seip Congenital Lipodystrophy". University of Washington, Seattle. Retrieved September 5, 2012.
^ C. A. Kim, Marc Delépine ,Emilie Boutet ,Haquima El Mourabit, et. al. (April 2008). "Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy". Journal of Clinical Endocrinology & Metabolism 93 (4): 1129. doi:10.1210/jc.2007-1328.
^ Agarwal AK, Arioglu E, de Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A (May 2002). "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34". Nature 31 (1): 21–23. doi:10.1038/ng880. PMID 11967537.
^ Parton R.G., Simons K. (2007). "The multiple faces of caveolae". Nat Rev Mol Cell Biol 8 (3): 185–94.
^ "PTRF". U.S. National Library of Medicine. Retrieved November 7, 2012.
^ Victoria, I; Saad, M; Purisch, S; Pardini, V (May 1997). "Metformin improves metabolic control in subjects with congenital generalized lipoatrophic diabetes". Diabetes 46: 618.
^ Petersen K.F., Oral E.A., Dufour S., et. al. (May 2002). "Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy". Journal of Clinical Investigation 109: 1345–1350. doi:10.1172/JCI15001.
^ Gomes K, Pardini VC, Fernandes AP (April 2009). "Clinical and molecular aspects of Berardinelli–Seip Congenital Lipodystrophy (BSCL)". Clinica Chimica Acta 402: 1–6. doi:10.1016/j.cca.2008.12.032.
^ W. Berardinelli (February 1954). "An Undiagnosed Endocrinometabolic Syndrome: Report Of 2 Cases". JCEM 14 (2): 193–204. doi:10.1210/jcem-14-2-193.
^ Seip, M. (November 1959). "Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?". Acta pædiatrica 48: 555.
^ Garg A, Ross W, Barnes R, Arioglu E et al. (1999). "A gene for congenital generalized lipodystrophy maps to chromosome 9q34". Joournal of Clinical Endocrinology Metabolism 84 (9): 3390–3394.
^ Magre J, Delepine M, Khallouf E, Geddhe-Dahl T et al. (2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nature Genetics 28 (4): 365–370.
^ Shastry, Savitha (2010). "Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations". American journal of medical genetics. Part A 152A: 2245. doi:10.1002/ajmg.a.33578.

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 脂肪異栄養症症候群 lipodystrophic syndromes
2. 黒色表皮腫 acanthosis nigricans
3. 高身長や異常に急激な成長がみられる小児 the child with tall stature and or abnormally rapid growth

English Journal

Control of lipid droplet size in budding yeast requires the collaboration between Fld1 and Ldb16.

Wang CW1, Miao YH, Chang YS.Author information 1Institute of Plant and Microbial Biology, Academia Sinica, Nankang, Taipei 11529, Taiwan.AbstractThe human congenital generalized lipodystrophy type 2 protein seipin (Fld1 in budding yeast) controls lipid droplet (LD) size through an unknown mechanism. Here, we report that deletion of yeast LDB16/YCL005W, similar to deletion of FLD1, causes supersized and small clustered LDs, altered phospholipid metabolism and impaired distribution of a subset of LD proteins. Ldb16 is a transmembrane protein in the endoplasmic reticulum (ER) that assembles together with Fld1 at ER-LD contact sites, a region that probably links neutral lipid synthesis with LD assembly. The formation of the Fld1-Ldb16 complex involves putative transmembrane segments of both proteins, thus, directly contributing to the maintenance of LD morphology. The stability of Ldb16 requires Fld1, as Ldb16 is subjected to ER-associated degradation (ERAD) in the absence of Fld1 but is stabilized when Fld1 is present. Strikingly, human seipin, but not yeast Fld1, complements the defects in LDs in ldb16Δ yeast, implying that seipin can substitute for the function of the Fld1-Ldb16 complex. We propose that human seipin might adopt the architecture of the yeast Fld1-Ldb16 complex in order to properly maintain the size of LDs.
Journal of cell science.J Cell Sci.2014 Mar 15;127(Pt 6):1214-28. doi: 10.1242/jcs.137737. Epub 2014 Jan 16.
The human congenital generalized lipodystrophy type 2 protein seipin (Fld1 in budding yeast) controls lipid droplet (LD) size through an unknown mechanism. Here, we report that deletion of yeast LDB16/YCL005W, similar to deletion of FLD1, causes supersized and small clustered LDs, altered phospholip
PMID 24434579

Leptin ameliorates insulin resistance and hepatic steatosis in Agpat2-/- lipodystrophic mice independent of hepatocyte leptin receptors.

Cortés VA1, Cautivo KM, Rong S, Garg A, Horton JD, Agarwal AK.Author information 1Department of Molecular Genetics, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX.AbstractLeptin is essential for energy homeostasis and regulation of food intake. Patients with congenital generalized lipodystrophy (CGL) due to mutations in 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) and the CGL murine model (Agpat2(-/-) mice) both have severe insulin resistance, diabetes mellitus, hepatic steatosis, and low plasma leptin levels. In this study, we show that continuous leptin treatment of Agpat2(-/-) mice for 28 days reduced plasma insulin and glucose levels and normalized hepatic steatosis and hypertriglyceridemia. Leptin also partially, but significantly, reversed the low plasma thyroxine and high corticosterone levels found in Agpat2(-/-) mice. Levels of carbohydrate response element binding protein (ChREBP) were reduced, whereas lipogenic gene expression were increased in the livers of Agpat2(-/-) mice, suggesting that deregulated ChREBP contributed to the development of fatty livers in these mice and that this transcription factor is a target of leptin's beneficial metabolic action. Leptin administration did not change hepatic fatty acid oxidation enzymes mRNA levels in Agpat2(-/-) mice. The selective deletion of leptin receptors only in hepatocytes did not prevent the positive metabolic actions of leptin in Agpat2(-/-) mice, supporting the notion that the majority of metabolic actions of leptin are dependent on its action in nonhepatocyte cells and/or the central nervous system.
Journal of lipid research.J Lipid Res.2014 Feb;55(2):276-88. doi: 10.1194/jlr.M045799. Epub 2013 Nov 30.
Leptin is essential for energy homeostasis and regulation of food intake. Patients with congenital generalized lipodystrophy (CGL) due to mutations in 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) and the CGL murine model (Agpat2(-/-) mice) both have severe insulin resistance, diabetes mel
PMID 24293639

Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies.

Nolis T.Author information Graduate Entry Medical School, Richmond Hill, Ontario, Canada.AbstractLipodystrophies are an immense group of genetic or acquired metabolic disorders that are characterized by varying degrees of body fat loss and in some instances localized accumulation of subcutaneous fat. Lipodystrophies are often tightly linked with profound metabolic complications; this strong bond emphasizes and reinforces the significance of adipose tissue as a dynamic endocrine organ. The extent of fat loss determines the severity of associated metabolic complications such as diabetes mellitus, hypertriglyceridemia and hepatic steatosis. The lipodystrophies can be divided into generalized, partial or local, depending on the degree and locality of the observable fat loss; moreover, the generalized and partial divisions can be partitioned further into inherited or acquired forms. The major genetic factors in the generalized forms of the lipodystrophies, particularly Congenital generalized lipodystrophy (CGL)-Berardinelli-Seip syndrome, are the AGPAT2, BSCL2, caveolin 1 (CAV1) and polymerase-I-and-transcriptrelease factor (PTRF) genes. In the acquired forms, genes such as LMNA, PPARG, CIDEC (cell-death-inducing DNA fragmentation factor a-like effector c) and PLIN1 are heavily involved in familial partial lipodystrophy (FPLD) type 2 (also known as the Dunnigan-Variety) and WRN along with RECQL5 in Werner Syndrome (WS). Autoimmune causes are particularly noted in acquired partial lipodystrophy (APL)-Barraquer-Simons syndrome and in AGL-Lawrence syndrome; panniculitis has been shown to have a substantial role in the former as well as in other forms of localized lipodystrophies. Patients with human immunodeficiency virus (HIV) exposed to protease inhibitors, nucleoside reverse transcriptase inhibitors (NRTIs) (for example, zidovudine and stavudine) or non-nucleoside reverse transcriptase inhibitors (NNRTIs) (for example, efavirenz) while undergoing Highly Active Antiretroviral Therapy (HAART) have led to the current most-prevalent form of the lipodystrophies: lipodystrophy in HIV-infected patients (LD-HIV) and HAART-associated lipodystrophy syndrome (HALS).
Journal of human genetics.J Hum Genet.2014 Jan;59(1):16-23. doi: 10.1038/jhg.2013.107. Epub 2013 Oct 24.
Lipodystrophies are an immense group of genetic or acquired metabolic disorders that are characterized by varying degrees of body fat loss and in some instances localized accumulation of subcutaneous fat. Lipodystrophies are often tightly linked with profound metabolic complications; this strong bon
PMID 24152769

Japanese Journal

シンポジウム３５‐２　運動ニューロン疾患の分子病態の解明と治療法開発への展望　Ｓｅｉｐｉｎｏｐａｔｈｙ／Ｓｅｉｐｉｎ／ＢＳＣＬ２関連運動ニューロン疾患‐神経変性における小胞体ストレスの重要性‐

伊東大介,八木拓也,鈴木則宏
臨床神経学 51(11), 1186-1188, 2011
… The Seipin/BSCL2 gene was originally identified as a loss-of-function gene for congenital generalized lipodystrophy type 2, a condition characterized by severe lipoatrophy, insulin resistance, and hypertriglyceridemia. …
NAID 130004504873

先天性全身性脂肪萎縮症の2乳児例

西山敦史,YAGI Mariko,AWANO Hiroyuki,OKIZUKA Yo,MAEDA Taro,YOSHIDA Shinsaku,TAKESHIMA Yasuhiro,MATSUO Masafumi
Pediatrics international : official journal of the Japan Pediatric Society 51(6), 775-779, 2009-12-01
NAID 10028180396

LMNA (Lamin A/C), PPARγ遺伝子に変異を認めず感音性難聴, 成長障害を認める Kobberling 型の先天性部分型リポジストロフィーの長期観察例 : チアゾリジン誘導体の効果を中心として

佐々木悠,大久保久美子,冨永博之 [他],富田健一,飯野研三,田尻祐司,前川聡,柏木厚典,小野順子,熊谷秋三,上園慶子,原文彦
糖尿病 51(9), 849-860, 2008-09-30
… 長期に観察し得た既存のLamin A/C, PPARγ遺伝子に変異を認めない，現時点では先天性の部分型リポジストロフィー(Congenital [familial] partial lipodystrophy)のKöbberling Type or variety: FPLD1)と考えられる現在36歳女性例を報告した．従来の臨床的表現型(phenotype)に加え，GH系に異常のない成長障害，感音性難聴，特異な脂肪分布（腹腔内脂肪のみ蓄積），脂肪肝を認めた．長期間の観察にてチアゾリジン誘導体（TZDs: …
NAID 10024364694

Related Pictures

★リンクテーブル★

リンク元	「先天性全身型リポジストロフィー」「先天性全身性リポジストロフィー」
関連記事	「congenita」「generalize」「generalized」「generalized lipodystrophy」「congenital」

「先天性全身型リポジストロフィー」

Congenital generalized lipodystrophy
	Classification and external resources
	; An MRI image illustrating the lack of subcutaneous fat of a patient with the disease (G) compared to a control patient (A).
ICD-10	E88.1
ICD-9	272.6
OMIM	608594 269700 612526 613327
DiseasesDB	34828 30065
eMedicine	article/1113171
MeSH	D052497
GeneReviews	Berardinelli-Seip Congenital Lipodystrophy;

　　[★]

英: congenital generalized lipodystrophy
関: 先天性全身性リポジストロフィー

「先天性全身性リポジストロフィー」

　　[★]

英: congenital generalized lipodystrophy
関: 先天性全身型リポジストロフィー

「congenita」

　　[★]

adj.

(後置するラテン語形容詞)先天性の

関: congenital、congenitally

ex.

dyskeratosis congenita、myotonia congenita

「generalize」

　　[★]

v.

一般化する、普遍化する、全身性化する

関: generalisation、generalise、generalization

「generalized」

　　[★]

adj.

汎化の、全般的な、全般性の、全身性の

関: generalization、systemic、systemically

「generalized lipodystrophy」

　　[★] 全身性リポジストロフィー、全身型リポジストロフィー

関: total lipodystrophy

「congenital」

　　[★]

adj.

生まれつきの、先天的な

[Andrews-1] James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 495. ISBN 0-7216-2921-0.

[NEJM-2] Garg, A (Mar 2004). "Acquired and inherited lipodystrophies". The New England Journal Of Medicine 350 (12): 1220–1234. doi:10.1056/NEJMra025261. PMID 15028826.

[pmid19041432-3] Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G (2009). "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation". Eur J Med Genet 52 (1): 14–6. doi:10.1016/j.ejmg.2008.10.006. PMID 19041432. Retrieved 2009-03-04.

[pmid7502362-4] Gürakan F, Koçak N, Yüce A (1995). "Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings". Turk. J. Pediatr. 37 (3): 241–6. PMID 7502362. |accessdate= requires |url= (help)

[pmid11018810-5] Viégas RF, Diniz RV, Viégas TM, Lira EB, Almeida DR (September 2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. PMID 11018810.

[Ind-6] Khandpur, Sujay. "Congenital generalized lipodystrophy of Berardinelli-Seip type: A rare case". Indian Journal Of Dermatology, Venereology And Leprology. p. 402. Retrieved October 16, 2012.

[GeneReviews-7] Van Maldergem, Lionel (1993). "Berardinelli-Seip Congenital Lipodystrophy". University of Washington, Seattle. Retrieved September 5, 2012.

[8] C. A. Kim, Marc Delépine ,Emilie Boutet ,Haquima El Mourabit, et. al. (April 2008). "Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy". Journal of Clinical Endocrinology & Metabolism 93 (4): 1129. doi:10.1210/jc.2007-1328.

[AGPAT2-9] Agarwal AK, Arioglu E, de Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A (May 2002). "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34". Nature 31 (1): 21–23. doi:10.1038/ng880. PMID 11967537.

[seven-10] Parton R.G., Simons K. (2007). "The multiple faces of caveolae". Nat Rev Mol Cell Biol 8 (3): 185–94.

[type4-11] "PTRF". U.S. National Library of Medicine. Retrieved November 7, 2012.

[12] Victoria, I; Saad, M; Purisch, S; Pardini, V (May 1997). "Metformin improves metabolic control in subjects with congenital generalized lipoatrophic diabetes". Diabetes 46: 618.

[13] Petersen K.F., Oral E.A., Dufour S., et. al. (May 2002). "Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy". Journal of Clinical Investigation 109: 1345–1350. doi:10.1172/JCI15001.

[CCA-14] Gomes K, Pardini VC, Fernandes AP (April 2009). "Clinical and molecular aspects of Berardinelli–Seip Congenital Lipodystrophy (BSCL)". Clinica Chimica Acta 402: 1–6. doi:10.1016/j.cca.2008.12.032.

[15] W. Berardinelli (February 1954). "An Undiagnosed Endocrinometabolic Syndrome: Report Of 2 Cases". JCEM 14 (2): 193–204. doi:10.1210/jcem-14-2-193.

[16] Seip, M. (November 1959). "Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome?". Acta pædiatrica 48: 555.

[17] Garg A, Ross W, Barnes R, Arioglu E et al. (1999). "A gene for congenital generalized lipodystrophy maps to chromosome 9q34". Joournal of Clinical Endocrinology Metabolism 84 (9): 3390–3394.

[18] Magre J, Delepine M, Khallouf E, Geddhe-Dahl T et al. (2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nature Genetics 28 (4): 365–370.

[19] Shastry, Savitha (2010). "Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations". American journal of medical genetics. Part A 152A: 2245. doi:10.1002/ajmg.a.33578.

匿名

検索

案内

案内

congenital generalized lipodystrophy