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Emery-Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia.

ABSTRACT: Hypertrophic cardiomyopathy could be part of a more complex syndrome like Emery-Dreifuss muscular dystrophy type 4. Genetic analysis allowed to identify a de novo heterozygous missense mutation in SYNE1 gene (chr6:152665253:G > C), supporting physician to reach a correct diagnosis in patient affected by cardiomyopathy associated with a difficult clinical scenario.

SUBMITTER: Sandra M

PROVIDER: S-EPMC6509902 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Emery-Dreifuss muscular dystrophy type 4: A new <i>SYNE1</i> mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia.

Sandra Mastroianno M Maria Pia Leone L Stefano Castellana C Pietro Palumbo P Crociani Paola P Aldo Russo R Giuseppe Di Stolfo DS Massimo Carella C

Clinical case reports 20190421 5

Hypertrophic cardiomyopathy could be part of a more complex syndrome like Emery-Dreifuss muscular dystrophy type 4. Genetic analysis allowed to identify a de novo heterozygous missense mutation in SYNE1 gene (chr6:152665253:G > C), supporting physician to reach a correct diagnosis in patient affected by cardiomyopathy associated with a difficult clinical scenario. ...[more]

PMID: 31110749

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Emery-Dreifuss muscular dystrophy.

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