Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy
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Caveolinopathies: from the biology of caveolin-3 to human diseasesAlterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling musclePrimary myopathies and the heart.The relative frequency of common neuromuscular diagnoses in a reference center.Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.
P2860
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy
description
article
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im Juli 2006 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована в липні 2006
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name
Novel splice site mutation in ...... limb girdle muscular dystrophy
@en
Novel splice site mutation in ...... limb girdle muscular dystrophy
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type
label
Novel splice site mutation in ...... limb girdle muscular dystrophy
@en
Novel splice site mutation in ...... limb girdle muscular dystrophy
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prefLabel
Novel splice site mutation in ...... limb girdle muscular dystrophy
@en
Novel splice site mutation in ...... limb girdle muscular dystrophy
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P2093
P1476
Novel splice site mutation in ...... limb girdle muscular dystrophy
@en
P2093
Beate Schlotter-Weigel
Christine Born
Dieter Pongratz
Henriett Piko
Juliane S. Müller
Maggie C. Walter
Peter Reilich
Stefanie Gürster
Veronika Karcagi
P304
P356
10.1016/J.NMD.2006.04.006
P577
2006-07-01T00:00:00Z