Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
Muscle Nerve
; 36(6): 856-9, 2007 Dec.
Article
em En
| MEDLINE
| ID: mdl-17657808
ABSTRACT
Recently, mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) were reported to underlie a neutral lipid storage disease (NLSD) subgroup characterized by mild myopathy and the absence of ichthyosis. In the present study a novel homozygous PNPLA2 mutation c.475_478dupCTCC (p.Gln160ProfsX19) in the patatin domain, the ATGL active site, was detected in a woman with NLSD and severe myopathy. The present results suggest that a premature truncation mutation in the patatin domain causes NLSD with severe myopathy.
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Base de dados:
MEDLINE
Assunto principal:
Músculo Esquelético
/
Predisposição Genética para Doença
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Transtornos do Metabolismo dos Lipídeos
/
Lipase
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Doenças Musculares
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Mutação
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article