Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome.
A Alonso‐Jiménez, C Ramon… - European Journal …, 2018 - search.ebscohost.com
European Journal of Neurology, 2018•search.ebscohost.com
The article focuses on majority of congenital structural abnormalities including corpus
callosum agenesis (CCA) are associated with genetic factors and stormorken syndrome
(SS) is a rare autosomal dominant disorder characterized by miosis and thrombocytopenia.
It mentions mutations in stromal interaction molecule which encodes a protein involved in
calcium homeostasis. It also mentions whole-body magnetic resonance imaging
demonstrated asplenia and muscle biopsy.
callosum agenesis (CCA) are associated with genetic factors and stormorken syndrome
(SS) is a rare autosomal dominant disorder characterized by miosis and thrombocytopenia.
It mentions mutations in stromal interaction molecule which encodes a protein involved in
calcium homeostasis. It also mentions whole-body magnetic resonance imaging
demonstrated asplenia and muscle biopsy.
Abstract
The article focuses on majority of congenital structural abnormalities including corpus callosum agenesis (CCA) are associated with genetic factors and stormorken syndrome (SS) is a rare autosomal dominant disorder characterized by miosis and thrombocytopenia. It mentions mutations in stromal interaction molecule which encodes a protein involved in calcium homeostasis. It also mentions whole-body magnetic resonance imaging demonstrated asplenia and muscle biopsy.
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