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Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation.
- Source :
-
Journal of the neurological sciences [J Neurol Sci] 2018 Oct 15; Vol. 393, pp. 142-144. Date of Electronic Publication: 2018 Aug 17. - Publication Year :
- 2018
- Subjects :
- Cardiomyopathy, Dilated diagnostic imaging
Cardiomyopathy, Dilated pathology
Diagnosis, Differential
Humans
Male
Myotonia Congenita diagnostic imaging
Myotonia Congenita pathology
Phenotype
Young Adult
Actins genetics
Cardiomyopathy, Dilated complications
Cardiomyopathy, Dilated genetics
Mutation
Myotonia Congenita complications
Myotonia Congenita genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-5883
- Volume :
- 393
- Database :
- MEDLINE
- Journal :
- Journal of the neurological sciences
- Publication Type :
- Report
- Accession number :
- 30195123
- Full Text :
- https://doi.org/10.1016/j.jns.2018.08.015