The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. (Q54592206)

1 June 2018

title

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. (English)

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myopathy with abnormal lipid metabolism

main subject

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6

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Benedikt Schoser

18

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Hanns Lochmüller

19

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Gregor Witte

Gregor Witte

14

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Rita Horvath

Rita Horvath

2

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Gráinne S. Gorman

8

Grainne S Gorman

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Elke Holinski-Feder

16

Elke Holinski-Feder

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Douglass Matthew Turnbull

5

Doug M Turnbull

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Kieren G Hollingsworth

7

Kieren G Hollingsworth

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Lesley-Anne Turner

12

Lesley Turner

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author name string

Peter Reilich

1

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Sabine Krause

3

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Nicolai Schramm

4

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Volkmar H Hans

9

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Jens Reimann

10

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Andrée MacMillan

11

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Annette Schollen

13

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Birgit Czermin

15

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Maggie C Walter

17

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publication date

5 May 2011

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1 June 2018

published in

Journal of Neurology

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volume

258

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issue

11

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page(s)

1987-1997

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https://scigraph.springernature.com/pub.10.1007/s00415-011-6055-4

exact match

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Neutral-lipid storage disease: a new disorder of lipid metabolism

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Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

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The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets

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The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).

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Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy

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Identifiers

DOI

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1 June 2018

PubMed ID

21544567

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1 June 2018