Neuromuscul Disord. 1999 May;9(3):144-9.

Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy.

Newman B, Meola G, O'Donovan DG, Schapira AH, Kingston H.

Source

University Department of Medical Genetics and Regional Genetic Service, St. Mary's Hospital, Manchester, UK.

Abstract

Proximal myotonic myopathy is a recently described autosomal dominant condition characterized by proximal myopathy, cataracts, intermittent myotonia, and myalgia. We report a further family with this condition. The proband and her two sisters presented with myotonia during pregnancy which resolved after each delivery. Two sisters experienced myalgia between each pregnancy. This relationship between pregnancy and symptom exacerbation suggests an intriguing hormonal influence in PROMM.

PMID:: 10382907; [PubMed - indexed for MEDLINE]

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Cited by 1 PubMed Central article

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