Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Abstract Background Myopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines. Autosomal dominant MYPN mutations cause hypertrophic, dilated, or restrictive cardiomyopathy. Autosomal recessive MYPN mutat...

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Bibliographic Details
Main Authors: Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Skeletal Muscle
Subjects:
Myopalladin (MYPN)
Z line
Hanging big toe
Cardiomyopathy
Contractures
Congenital muscular dystrophy
Online Access:http://link.springer.com/article/10.1186/s13395-019-0199-9

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http://link.springer.com/article/10.1186/s13395-019-0199-9

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