A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
about
RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.Novel recessive myotilin mutation causes severe myofibrillar myopathy.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesGenetic basis of limb-girdle muscular dystrophies: the 2014 updateThe Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Mitochondrial abnormalities in the myofibrillar myopathies.Prenatal diagnosis of congenital myopathies and muscular dystrophies.RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.
P2860
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P2860
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
description
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2011年学术文章
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name
A novel mutation in the myotil ...... uscular dystrophy 1A (LGMD1A).
@en
A novel mutation in the myotilin gene
@nl
type
label
A novel mutation in the myotil ...... uscular dystrophy 1A (LGMD1A).
@en
A novel mutation in the myotilin gene
@nl
prefLabel
A novel mutation in the myotil ...... uscular dystrophy 1A (LGMD1A).
@en
A novel mutation in the myotilin gene
@nl
P2093
P2860
P1433
P1476
A novel mutation in the myotil ...... uscular dystrophy 1A (LGMD1A).
@en
P2093
Barbara Zehetmayer
Maggie C Walter
Nicolai Schramm
Peter Reilich
Peter Schneiderat
Sabine Krause
Stefanie Bulst
Ursula Klutzny
P2860
P2888
P304
P356
10.1007/S00415-011-5953-9
P577
2011-02-20T00:00:00Z