Paper Report for: Al-Muhaizea_2017_Transl.Neurosci_8_65
Reference
Title: COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review Al-Muhaizea MA, Al-Mobarak SB Ref: Transl Neurosci, 8:65, 2017 : PubMed
Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include delayed motor milestones, recurrent respiratory illnesses and variable fatigable weakness. The central nervous system involvement is typically not part of the CMS. We report here a Saudi girl with genetically proven Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase (COLQ) mutation type CMS who has global developmental delay, microcephaly and respiratory failure. We have reviewed the literature regarding COLQ-type CMS and to the best of our knowledge this is the first ever reported association of congenital myasthenia syndrome with microcephaly.
        
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Al-Muhaizea MA, Al-Mobarak SB (2017) COLQ-mutant Congenital Myasthenic Syndrome with Microcephaly: A Unique Case with Literature Review Transl Neurosci8: 65-69