(Q46147317)

19 December 2017

title

Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation (English)

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19 December 2017

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6

Regina S Moisés

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19 December 2017

author name string

Patricia B Mory

1

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19 December 2017

Felipe Crispim

2

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19 December 2017

Teresa Kasamatsu

3

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19 December 2017

Monica A L Gabbay

4

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19 December 2017

Sergio A Dib

5

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19 December 2017

publication date

1 November 2008

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19 December 2017

Arquivos Brasileiros de Endocrinologia e Metabologia

published in

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19 December 2017

volume

52

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19 December 2017

issue

8

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19 December 2017

page(s)

1252-1256

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19 December 2017

Acquired and inherited lipodystrophies

cites work

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https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Genetic basis of lipodystrophies and management of metabolic complications

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

LMNA mutations in atypical Werner's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800008

10.1590/S0004-27302008000800008

21 January 2018

Identifiers

DOI

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19 December 2017

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19 December 2017