K�bberling-Dunnigan syndrome: A rare cause of generalized muscular hypertrophy

Wildermuth, Susanne; Spranger, Stephanie; Spranger, Matthias; Raue, Friedhelm; Meinck, Hans‐Michael

doi:10.1002/(sici)1097-4598(199607)19:7<843::aid-mus5>3.0.co;2-9

Cited by 15 publications

(6 citation statements)

References 14 publications

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“…While the exact mechanism of the latter is unknown at present, muscular hypertrophy is observed in some patients with both generalized and partial lipodystrophy (60)(61)(62). KO of dicer in fat also changes sensitivity to oxidative stress at the whole-body level in interesting ways.…”

Section: Methodsmentioning

confidence: 99%

Altered miRNA processing disrupts brown/white adipocyte determination and associates with lipodystrophy

Mori¹,

Thomou²,

Boucher³

et al. 2014

J. Clin. Invest.

153

170

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Section: Methodsmentioning

confidence: 99%

Altered miRNA processing disrupts brown/white adipocyte determination and associates with lipodystrophy

Mori¹,

Thomou²,

Boucher³

et al. 2014

J. Clin. Invest.

153

170

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“…Dunnigan-type familial partial lipodystrophy, also known as lipoatrophic diabetes mellitus and Dunnigan-Köbberling syndrome, is an autosomal dominant disorder characterized by peripheral fat loss, excess central adiposity, insulin resistance and usually type II diabetes mellitus (Dunnigan et al, 1974;Köbberling et al, 1975;Jackson et al, 1997). Some affected subjects have generalized hypertrophy of skeletal muscles (Wildermuth et al 1996;Vantyghem et al, 2004). In 1998, the gene for Dunnigan-type partial lipodystrophy was mapped to chromosome 1q21-22 (Jackson et al, 1998;Peters et al, 1998).…”

Section: Partial Lipodystrophymentioning

confidence: 99%

Nuclear Envelope, Nuclear Lamina, and Inherited Disease

Worman

Courvalin

2005

International Review of Cytology

101

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The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. In recent years, mutations in nuclear-envelope proteins have been shown to cause a surprisingly wide array of inherited diseases. While the mutant proteins are generally expressed in most or all differentiated somatic cells, many mutations cause fairly tissue-specific disorders. Perhaps the most dramatic case is that of mutations in A-type lamins, intermediate filament proteins associated with the inner nuclear membrane. Different mutations in the same lamin proteins have been shown to cause striated muscle diseases, partial lipodystrophy syndromes, a peripheral neuropathy, and disorders with features of severe premature aging. In this review, we summarize fundamental aspects of nuclear envelope structure and function, the inherited diseases caused by mutations in lamins and other nuclear envelope proteins, and possible pathogenic mechanisms.

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“…This is followed by increased fat in the face and neck as puberty is completed [42,43]. The visceral fat and interfascicular intramuscular fat depots are preserved [44,45]. While the disease affects both sexes, the phenotype is much easier to discern in females leading to ascertainment bias of female probands.…”

Section: Primary Lipoatrophy Syndromesmentioning

confidence: 99%

Untitled

Oral

2003

Reviews in Endocrine and Metabolic Disorders

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Millions of Americans are afflicted by obesity and type 2 diabetes mellitus. Obesity is characterized by increased body adiposity and leads to insulin resistance. Paradoxically, some conditions that are characterized by a paucity of fat also cause insulin resistance, namely the syndromes of lipoatrophy (Fig. 1). The resemblance between the metabolic abnormalities of these two extreme states of adiposity emphasizes the importance of fat tissue in energy homeostasis. This review focuses on the syndromes of lipodystrophy and lipoatrophy that are at the lean extreme of the spectrum and which are characterized by near-complete absence of fat.

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K�bberling-Dunnigan syndrome: A rare cause of generalized muscular hypertrophy

Cited by 15 publications

References 14 publications

Altered miRNA processing disrupts brown/white adipocyte determination and associates with lipodystrophy

Altered miRNA processing disrupts brown/white adipocyte determination and associates with lipodystrophy

Nuclear Envelope, Nuclear Lamina, and Inherited Disease

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