Exome sequencing detection of two untranslatedGFPT1mutations in a family with limb-girdle myasthenia

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

(2011) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Limb-Girdle Myasthenia Gravis in a 10-Year-Old Girl

(2011) Naveen Sankhyan et al.   JOURNAL OF CHILD NEUROLOGY

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

(2011) Velina Guergueltcheva et al.   JOURNAL OF NEUROLOGY

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

(2010) RA Maselli et al.   CLINICAL GENETICS

DOK7 mutations presenting as a proximal myopathy in French Canadians

(2010) Myriam Srour et al.   NEUROMUSCULAR DISORDERS

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

(2009) Caroline Huzé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

(2009) R A Maselli et al.   JOURNAL OF MEDICAL GENETICS

Variable phenotypes associated with mutations inDOK7

(2007) Jennifer A. Anderson et al.   MUSCLE & NERVE