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Mutations in myotilin cause myofibrillar myopathy
Duygu Selcen
,
Andrew G. Engel
Neurology
Research output
:
Contribution to journal
›
Article
›
peer-review
228
Scopus citations
Overview
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Dive into the research topics of 'Mutations in myotilin cause myofibrillar myopathy'. Together they form a unique fingerprint.
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Medicine & Life Sciences
Myofibrillar Myopathy
100%
Myotilinopathy
34%
Mutation
32%
Muscular dystrophy, limb-girdle, type 1A
17%
Cardiomyopathies
15%
Exons
13%
Crystallins
10%
Desmin
9%
Proteins
9%
Ectopic Gene Expression
9%
Peripheral Nervous System Diseases
8%
Missense Mutation
8%
Serine
7%
Extremities
6%
Phenotype
4%