Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
about
Myofibrillar myopathies: new developments.Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 GeneFhl1 W122S causes loss of protein function and late-onset mild myopathy.Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.Filamin C-related myopathies: pathology and mechanisms.199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.Diagnosis of muscle diseases presenting with early respiratory failure.The sarcomeric M-region: a molecular command center for diverse cellular processes.Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement.Muscle MRI in pediatrics: clinical, pathological and genetic correlation.
P2860
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P2860
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
@ast
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
@en
type
label
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
@ast
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
@en
prefLabel
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
@ast
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
@en
P2093
P2860
P1433
P1476
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.
@en
P2093
Andrew G Engel
Duygu Selcen
Mark B Bromberg
Steven S Chin
P2860
P304
P356
10.1212/WNL.0B013E31823A0EBE
P407
P577
2011-11-16T00:00:00Z