Sewry C

Title : Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha1 Chain - Logan_2015_Am.J.Hum.Genet_97_878

Author(s) : Logan CV , Cossins J , Rodriguez Cruz PM , Parry DA , Maxwell S , Martinez-Martinez P , Riepsaame J , Abdelhamed ZA , Lake AV , Moran M , Robb S , Chow G , Sewry C , Hopkins PM , Sheridan E , Jayawant S , Palace J , Johnson CA , Beeson D

Ref : American Journal of Human Genetics , 97 :878 , 2015

Abstract :

PubMedSearch : Logan_2015_Am.J.Hum.Genet_97_878

PubMedID: 26626625

Title : Congenital myopathies with secondary neuromuscular transmission defects\; A case report and review of the literature - Rodriguez_2014_Neuromuscul.Disord_24_1103

Author(s) : Rodriguez Cruz PM , Sewry C , Beeson D , Jayawant S , Squier W , McWilliam R , Palace J

Ref : Neuromuscular Disorders , 24 :1103 , 2014

Abstract :

PubMedSearch : Rodriguez_2014_Neuromuscul.Disord_24_1103

PubMedID: 25127990

Sewry C

References (2)

1. Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII alpha1 Chain - Logan_2015_Am.J.Hum.Genet_97_878

2. Congenital myopathies with secondary neuromuscular transmission defects\; A case report and review of the literature - Rodriguez_2014_Neuromuscul.Disord_24_1103