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Article

Neuromuscular endplate pathology in recessive desminopathies

20 Jul 2016

Abstract excerpt

OBJECTIVE: To assess the clinical, genetic, and myopathologic findings in 2 cousins with lack of desmin, the response to salbutamol in one patient, and the neuromuscular endplate pathology in a knock-in mouse model for recessive desminopathy. METHODS: We performed clinical investigations in the patients, genetic studies for linkage mapping, exome sequencing, and qPCR for transcript quantification, assessment of...

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PMID: 27440146
DOI: 10.1212/wnl.0000000000003004

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