Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
about
The toxic effect of R350P mutant desmin in striated muscle of man and mouseIntermediate Filaments as Organizers of Cellular Space: How They Affect Mitochondrial Structure and FunctionAAV9-mediated gene transfer of desmin ameliorates cardiomyopathy in desmin-deficient mice.Myofibrillar myopathies: new developments.Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathyUnusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Mitochondrial dysfunction in myofibrillar myopathy.Mitochondrial abnormalities in the myofibrillar myopathies.Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in miceMutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissueDesmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNAMolecular insights into cardiomyopathies associated with desmin (DES) mutations
P2860
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P2860
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
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2013年学术文章
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2013年學術文章
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2013年學術文章
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name
Recessive desmin-null muscular ...... d mitochondrial abnormalities.
@en
Recessive desmin-null muscular ...... d mitochondrial abnormalities.
@nl
type
label
Recessive desmin-null muscular ...... d mitochondrial abnormalities.
@en
Recessive desmin-null muscular ...... d mitochondrial abnormalities.
@nl
prefLabel
Recessive desmin-null muscular ...... d mitochondrial abnormalities.
@en
Recessive desmin-null muscular ...... d mitochondrial abnormalities.
@nl
P2093
P2860
P1476
Recessive desmin-null muscular ...... d mitochondrial abnormalities.
@en
P2093
Caroline Sewry
Cheryl Longman
Iain Horrocks
Judith Hudson
Julie Marsh
Kate Bushby
Langping He
Liesbeth De Waele
Matthew Henderson
Michelle Eagle
P2860
P2888
P304
P356
10.1007/S00401-013-1113-X
P577
2013-04-11T00:00:00Z