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Nondystrophic Myotonias

ABSTRACT:

NMD are rare ion channel disorders. The optimal management and treatment of these disorders are not known. This multi-center proposal will allow the prospective collection of standardized data from a critical number of patients to help better define the clinical features of NDM. The data will also be used to establish clinically relevant endpoints for use in therapeutic trials. The identification and genetic characterization of patients will facilitate recruitment of participants for future therapeutic trials. Ultimately, the information gained will lead to the improvements in the treatment and management of NMD with an associated reduction in morbidity and improvement in patient quality of life.

PROVIDER: phs000578 | dbGaP |

SECONDARY ACCESSION(S): PRJNA185249PRJNA185250

REPOSITORIES: dbGaP

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Dataset's files

Source:

			Action	DRS
	GapExchange_phs000578.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	phs000578.v1-Documents.zip	Other
	Study_Report.phs000578.CINCH_5303.v1.p1.MULTI.pdf	Pdf
	manifest_phs000578.CINCH_5303.v1.p1.c1.GRU-IRB-PUB.pdf	Pdf

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