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Stereotyped Upper Limb Movement in MECP2 Duplication Syndrome

Tomohiro Wakabayashi1, Shinobu Fukumura2, Satoru Takahashi1

  • 1From the Department of Pediatrics (T.W., S.F., K.T., S.K., T.T., Y.K.), Sapporo Medical University School of Medicine; Department of Pediatrics (S.T.), Asahikawa Medical University, Hokkaido; Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center; and Departments of Gastroenterology (S.M.) and Pediatrics (T.W., Y.S.), Hakodate Municipal Hospital, Japan.

Neurology
|May 1, 2021
PubMed
Abstract

No abstract available in PubMed .

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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