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Quoted phrase not found in phrase index: "Emery-Dreifuss muscular dystrophy 7, autosomal dominant"
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Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.
Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P. Smith GC, et al. J Cardiovasc Magn Reson. 2006;8(5):723-30. doi: 10.1080/10976640600723862. J Cardiovasc Magn Reson. 2006. PMID: 16891232
BACKGROUND: Emery-Dreifuss muscular dystrophy is a genetically heterogeneous form of muscular dystrophy. ...AIM: In this study, we hypothesized that early myocardial dysfunction can be detected by tissue Doppler echocardiography and CMR i …
BACKGROUND: Emery-Dreifuss muscular dystrophy is a genetically heterogeneous form of muscular dystroph …
Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.
Arimura S, Okada T, Tezuka T, Chiyo T, Kasahara Y, Yoshimura T, Motomura M, Yoshida N, Beeson D, Takeda S, Yamanashi Y. Arimura S, et al. Science. 2014 Sep 19;345(6203):1505-8. doi: 10.1126/science.1250744. Science. 2014. PMID: 25237101
Defects in NMJ transmission cause muscle weakness, termed myasthenia. The muscle protein Dok-7 is essential for activation of the receptor kinase MuSK, which governs NMJ formation, and DOK7 mutations underlie familial limb-girdle myasthenia (DOK7 myasthenia), a neuromuscul …
Defects in NMJ transmission cause muscle weakness, termed myasthenia. The muscle protein Dok-7 is essential for activation of the rec …