Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
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A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association oCopy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expressionDesminopathies: pathology and mechanisms.Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.Primary desminopathiesIntermediate filament diseases: desminopathy.Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.Desmin-related myopathy.Molecular insights into cardiomyopathies associated with desmin (DES) mutations
P2860
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P2860
Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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name
Distinct phenotypic features a ...... ly with desmin L370P mutation.
@en
Distinct phenotypic features a ...... ly with desmin L370P mutation.
@nl
type
label
Distinct phenotypic features a ...... ly with desmin L370P mutation.
@en
Distinct phenotypic features a ...... ly with desmin L370P mutation.
@nl
prefLabel
Distinct phenotypic features a ...... ly with desmin L370P mutation.
@en
Distinct phenotypic features a ...... ly with desmin L370P mutation.
@nl
P2093
P1476
Distinct phenotypic features a ...... ily with desmin L370P mutation
@en
P2093
Angel Carracedo
Carmen Navarro
Dolores Dapena
Lev G Goldfarb
Manuel Arias
María-Jesús Sobrido
Susana Arias
P304
P356
10.1016/J.NMD.2006.05.011
P577
2006-06-27T00:00:00Z