Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
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Evidence-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 oFhl1 W122S causes loss of protein function and late-onset mild myopathy.Diagnosis of muscle diseases presenting with early respiratory failure.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
P2860
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
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2011 nî lūn-bûn
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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
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2011 թվականի հունիսին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
@ast
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
@en
type
label
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
@ast
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
@en
prefLabel
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
@ast
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
@en
P2093
P2860
P356
P1476
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
@en
P2093
Anna Sarkozy
Bryan Lecky
Charlotte F Dougan
Christian Windpassinger
David Hilton-Jones
Judith Hudson
Kate Bushby
Michelle Eagle
Richard Charlton
Rita Barresi
P2860
P2888
P304
P356
10.1038/EJHG.2011.84
P577
2011-06-01T00:00:00Z