Paramyotonia congenita in 22 members of an Arab (Omani) kindred

Roshan Koul; Amna Alfutaisi; Manjusha Hira

doi:10.1177/0883073808330185

Paramyotonia congenita in 22 members of an Arab (Omani) kindred

Roshan Koul^*, Amna Alfutaisi, Manjusha Hira

^*Corresponding author for this work

Child Health

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, this is the first report of the condition from this region. Childhood presentation and differential diagnosis is discussed.

Original language	English
Pages (from-to)	212-215
Number of pages	4
Journal	Journal of Child Neurology
Volume	25
Issue number	2
DOIs	https://doi.org/10.1177/0883073808330185
Publication status	Published - Feb 2010

Keywords

Autosomal dominant
Myotonia
Omani kindred
Paramyotonia congenita

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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10.1177/0883073808330185

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abstract = "Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, this is the first report of the condition from this region. Childhood presentation and differential diagnosis is discussed.",

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N2 - Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, this is the first report of the condition from this region. Childhood presentation and differential diagnosis is discussed.

AB - Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, this is the first report of the condition from this region. Childhood presentation and differential diagnosis is discussed.

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KW - Paramyotonia congenita

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Paramyotonia congenita in 22 members of an Arab (Omani) kindred

Abstract

Keywords

ASJC Scopus subject areas

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